GenomeNet

Database: RefSeq
Entry: NP_056318
LinkDB: NP_056318
Original site: NP_056318 
LOCUS       NP_056318                671 aa            linear   PRI 02-APR-2018
DEFINITION  SH2B adapter protein 1 isoform 2 [Homo sapiens].
ACCESSION   NP_056318
VERSION     NP_056318.2
DBSOURCE    REFSEQ: accession NM_015503.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 671)
  AUTHORS   Delacretaz A, Zdralovic A, Vandenberghe F, Saigi-Morgui N, Glatard
            A, Quteineh L, Gholam-Rezaee M, Raffoul W, Applegate LA, Jafari P,
            Gamma F, von Gunten A, Conus P and Eap CB.
  TITLE     Association of variants in SH2B1 and RABEP1 with worsening of
            low-density lipoprotein and glucose parameters in patients treated
            with psychotropic drugs
  JOURNAL   Gene 628, 8-15 (2017)
   PUBMED   28694205
  REMARK    GeneRIF: SH2B1 and RABEP1 genetic variants are associated with
            worsening of LDL and glucose parameters in patients treated with
            psychotropic drugs
REFERENCE   2  (residues 1 to 671)
  AUTHORS   Li L, Huang L, Lin S, Luo Y and Fang Q.
  TITLE     Discordant phenotypes in monozygotic twins with 16p11.2
            microdeletions including the SH2B1 gene
  JOURNAL   Am. J. Med. Genet. A 173 (8), 2284-2288 (2017)
   PUBMED   28544142
  REMARK    GeneRIF: Chromosome microarray analysis was performed on both twins
            and their parents. An identical 244 kb microdeletion on 16p11.2
            including 9 Refseq genes, including SH2B1, was identified in the
            twins.
REFERENCE   3  (residues 1 to 671)
  AUTHORS   Chen KW, Chang YJ, Yeh CM, Lian YL, Chan MW, Kao CF and Chen L.
  TITLE     SH2B1 modulates chromatin state and MyoD occupancy to enhance
            expressions of myogenic genes
  JOURNAL   Biochim. Biophys. Acta 1860 (2), 270-281 (2017)
   PUBMED   28039048
  REMARK    GeneRIF: SH2B1 fine-tunes global-local chromatin states.
REFERENCE   4  (residues 1 to 671)
  AUTHORS   Shen Y, Xia Y, Meng S, Lim NK, Wang W and Huang F.
  TITLE     SH2B1 is Involved in the Accumulation of Amyloid-beta42 in
            Alzheimer's Disease
  JOURNAL   J. Alzheimers Dis. 55 (2), 835-847 (2017)
   PUBMED   27802221
  REMARK    GeneRIF: This study is the first to show that neuronal SH2B1, a key
            protein in insulin signaling, may have a role in the accumulation
            of Abeta42 in an animal model of Alzheimer's Disease.
REFERENCE   5  (residues 1 to 671)
  AUTHORS   Lange LA, Graff M, Lange EM, Young KL, Richardson AS, Mohlke KL,
            North KE, Harris KM and Gordon-Larsen P.
  TITLE     Evidence for Association between SH2B1 Gene Variants and Glycated
            Hemoglobin in Nondiabetic European American Young Adults: The Add
            Health Study
  JOURNAL   Ann. Hum. Genet. 80 (5), 294-305 (2016)
   PUBMED   27530450
  REMARK    GeneRIF: SH2B1 polymorphisms are associated with HbA1c, largely
            independent of BMI, in European American young adults.
REFERENCE   6  (residues 1 to 671)
  AUTHORS   Jamshidi Y, Snieder H, Ge D, Spector TD and O'Dell SD.
  TITLE     The SH2B gene is associated with serum leptin and body fat in
            normal female twins
  JOURNAL   Obesity (Silver Spring) 15 (1), 5-9 (2007)
   PUBMED   17228025
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (residues 1 to 671)
  AUTHORS   Jones RB, Gordus A, Krall JA and MacBeath G.
  TITLE     A quantitative protein interaction network for the ErbB receptors
            using protein microarrays
  JOURNAL   Nature 439 (7073), 168-174 (2006)
   PUBMED   16273093
REFERENCE   8  (residues 1 to 671)
  AUTHORS   Nishi M, Werner ED, Oh BC, Frantz JD, Dhe-Paganon S, Hansen L, Lee
            J and Shoelson SE.
  TITLE     Kinase activation through dimerization by human SH2-B
  JOURNAL   Mol. Cell. Biol. 25 (7), 2607-2621 (2005)
   PUBMED   15767667
  REMARK    GeneRIF: SH2-B or APS homodimerization and SH2-B/APS
            heterodimerization thus provide direct mechanisms for activating
            and inhibiting Janus kinase 2
REFERENCE   9  (residues 1 to 671)
  AUTHORS   Kong M, Wang CS and Donoghue DJ.
  TITLE     Interaction of fibroblast growth factor receptor 3 and the adapter
            protein SH2-B. A role in STAT5 activation
  JOURNAL   J. Biol. Chem. 277 (18), 15962-15970 (2002)
   PUBMED   11827956
REFERENCE   10 (residues 1 to 671)
  AUTHORS   Kotani K, Wilden P and Pillay TS.
  TITLE     SH2-Balpha is an insulin-receptor adapter protein and substrate
            that interacts with the activation loop of the insulin-receptor
            kinase
  JOURNAL   Biochem. J. 335 (Pt 1), 103-109 (1998)
   PUBMED   9742218
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL713760.1, AC133550.2,
            AK290332.1 and BC010704.1.
            On Mar 12, 2009 this sequence version replaced NP_056318.1.
            
            Summary: This gene encodes a member of the SH2-domain containing
            mediators family. The encoded protein mediates activation of
            various kinases and may function in cytokine and growth factor
            receptor signaling and cellular transformation. Alternatively
            spliced transcript variants have been described. [provided by
            RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            contains an alternate exon in the 3' coding region, which results
            in a frameshift and an early stop codon compared to variant 1. The
            resulting protein (isoform 2), also known as SH2B adaptor protein 1
            beta, is shorter and has a distinct C-terminus compared to isoform
            1. Variants 2, 3 and 4 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL713760.1, AB037720.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..671
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     Protein         1..671
                     /product="SH2B adapter protein 1 isoform 2"
                     /note="SH2 domain-containing protein 1B; pro-rich, PH and
                     SH2 domain-containing signaling mediator; SH2-B signaling
                     protein; SH2 domain-containing putative adapter SH2-B"
                     /calculated_mol_wt=70650
     Region          1..555
                     /region_name="Interaction with JAK2 (low-affinity binding,
                     independent of JAK2 phosphorylation). {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       2
                     /replace="n"
                     /db_xref="dbSNP:1401148155"
     variation       2
                     /replace="s"
                     /db_xref="dbSNP:748880429"
     variation       3
                     /replace="g"
                     /db_xref="dbSNP:770542731"
     variation       4
                     /replace="t"
                     /db_xref="dbSNP:974589619"
     variation       4
                     /replace="v"
                     /db_xref="dbSNP:1212406427"
     variation       5
                     /replace="p"
                     /db_xref="dbSNP:1321973806"
     variation       5
                     /replace="s"
                     /db_xref="dbSNP:1314387119"
     variation       6
                     /replace="f"
                     /db_xref="dbSNP:773735992"
     variation       6
                     /replace="p"
                     /db_xref="dbSNP:1401942551"
     variation       6
                     /replace="s"
                     /db_xref="dbSNP:1289331491"
     variation       8
                     /replace="k"
                     /db_xref="dbSNP:759027187"
     variation       9
                     /replace="-"
                     /db_xref="dbSNP:1217328706"
     variation       9
                     /replace="d"
                     /db_xref="dbSNP:772157677"
     variation       10
                     /replace="r"
                     /db_xref="dbSNP:775528324"
     variation       11
                     /replace="a"
                     /db_xref="dbSNP:1183700700"
     variation       12
                     /replace="f"
                     /db_xref="dbSNP:760583013"
     variation       13
                     /replace="l"
                     /db_xref="dbSNP:1480750629"
     variation       13
                     /replace="p"
                     /db_xref="dbSNP:1039184899"
     variation       13
                     /replace="t"
                     /db_xref="dbSNP:1423472977"
     variation       14
                     /replace="l"
                     /db_xref="dbSNP:763955724"
     variation       14
                     /replace="p"
                     /db_xref="dbSNP:1191317764"
     variation       14
                     /replace="s"
                     /db_xref="dbSNP:773538002"
     variation       16
                     /replace="s"
                     /db_xref="dbSNP:532206639"
     variation       17
                     /replace="p"
                     /db_xref="dbSNP:751616253"
     variation       17
                     /replace="q"
                     /db_xref="dbSNP:545508137"
     variation       18
                     /replace="l"
                     /db_xref="dbSNP:755049475"
     variation       18
                     /replace="v"
                     /db_xref="dbSNP:1304095139"
     variation       19
                     /replace="p"
                     /db_xref="dbSNP:768056949"
     variation       20
                     /replace="p"
                     /db_xref="dbSNP:1355653845"
     variation       20
                     /replace="s"
                     /db_xref="dbSNP:753181168"
     variation       21
                     /replace="a"
                     /db_xref="dbSNP:756529856"
     variation       21
                     /replace="p"
                     /db_xref="dbSNP:778108707"
     variation       22
                     /replace="l"
                     /db_xref="dbSNP:749598219"
     variation       22
                     /replace="p"
                     /db_xref="dbSNP:945365382"
     Region          24..85
                     /region_name="Required for self-association"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       24
                     /replace="p"
                     /db_xref="dbSNP:1212256189"
     variation       24
                     /replace="pp"
                     /db_xref="dbSNP:1486934592"
     variation       25
                     /replace="c"
                     /db_xref="dbSNP:756872302"
     variation       25
                     /replace="t"
                     /db_xref="dbSNP:1469185559"
     Region          26..81
                     /region_name="Phe_ZIP"
                     /note="Phenylalanine zipper; pfam08916"
                     /db_xref="CDD:286060"
     variation       26
                     /replace="c"
                     /db_xref="dbSNP:778578118"
     variation       27
                     /replace="q"
                     /db_xref="dbSNP:559282918"
     variation       27
                     /replace="w"
                     /db_xref="dbSNP:933512684"
     variation       28
                     /replace="e"
                     /db_xref="dbSNP:775614229"
     variation       28
                     /replace="k"
                     /db_xref="dbSNP:771673446"
     variation       31
                     /replace="d"
                     /db_xref="dbSNP:746926790"
     variation       33
                     /replace="h"
                     /db_xref="dbSNP:377177338"
     variation       33
                     /replace="r"
                     /db_xref="dbSNP:1406352602"
     variation       34
                     /replace="t"
                     /db_xref="dbSNP:1177602899"
     variation       35
                     /replace="q"
                     /db_xref="dbSNP:761623169"
     variation       36
                     /replace="s"
                     /db_xref="dbSNP:1468951127"
     variation       37
                     /replace="a"
                     /db_xref="dbSNP:528015738"
     variation       37
                     /replace="t"
                     /db_xref="dbSNP:766544611"
     variation       37
                     /replace="v"
                     /db_xref="dbSNP:1378692617"
     variation       38
                     /replace="a"
                     /db_xref="dbSNP:1016698306"
     variation       39
                     /replace="v"
                     /db_xref="dbSNP:767572070"
     variation       40
                     /replace="a"
                     /db_xref="dbSNP:866259888"
     variation       41
                     /replace="f"
                     /db_xref="dbSNP:753271184"
     variation       43
                     /replace="c"
                     /db_xref="dbSNP:547678855"
     variation       43
                     /replace="h"
                     /db_xref="dbSNP:567572938"
     variation       44
                     /replace="c"
                     /db_xref="dbSNP:754174914"
     variation       44
                     /replace="h"
                     /db_xref="dbSNP:778471031"
     variation       46
                     /replace="c"
                     /db_xref="dbSNP:1458396328"
     variation       46
                     /replace="h"
                     /db_xref="dbSNP:1181457401"
     variation       46
                     /replace="r"
                     /db_xref="dbSNP:1231596006"
     variation       48
                     /replace="f"
                     /db_xref="dbSNP:995135398"
     variation       48
                     /replace="p"
                     /db_xref="dbSNP:750800783"
     variation       48
                     /replace="y"
                     /db_xref="dbSNP:745508472"
     variation       49
                     /replace="l"
                     /db_xref="dbSNP:758036479"
     variation       49
                     /replace="q"
                     /db_xref="dbSNP:779704156"
     variation       50
                     /replace="s"
                     /db_xref="dbSNP:1479798860"
     variation       52
                     /replace="h"
                     /db_xref="dbSNP:768739624"
     variation       52
                     /replace="p"
                     /db_xref="dbSNP:1057092631"
     variation       52
                     /replace="y"
                     /db_xref="dbSNP:368808399"
     variation       53
                     /replace="a"
                     /db_xref="dbSNP:1446015841"
     variation       53
                     /replace="l"
                     /db_xref="dbSNP:1307169954"
     variation       53
                     /replace="p"
                     /db_xref="dbSNP:776594392"
     variation       54
                     /replace="q"
                     /db_xref="dbSNP:201753799"
     variation       55
                     /replace="h"
                     /db_xref="dbSNP:1352604126"
     variation       56
                     /replace="a"
                     /db_xref="dbSNP:769613563"
     variation       56
                     /replace="v"
                     /db_xref="dbSNP:747937817"
     variation       57
                     /replace="r"
                     /db_xref="dbSNP:1344830321"
     variation       58
                     /replace="l"
                     /db_xref="dbSNP:1235632577"
     variation       58
                     /replace="p"
                     /db_xref="dbSNP:774495215"
     variation       59
                     /replace="g"
                     /db_xref="dbSNP:1018595385"
     variation       59
                     /replace="r"
                     /db_xref="dbSNP:759750417"
     variation       60
                     /replace="a"
                     /db_xref="dbSNP:550314573"
     variation       62
                     /replace="a"
                     /db_xref="dbSNP:1445350561"
     variation       64
                     /replace="f"
                     /db_xref="dbSNP:978410642"
     variation       65
                     /replace="c"
                     /db_xref="dbSNP:1244992637"
     variation       65
                     /replace="p"
                     /db_xref="dbSNP:895637868"
     variation       66
                     /replace="c"
                     /db_xref="dbSNP:760696398"
     variation       66
                     /replace="h"
                     /db_xref="dbSNP:377499837"
     variation       67
                     /replace="c"
                     /db_xref="dbSNP:781063312"
     variation       67
                     /replace="h"
                     /db_xref="dbSNP:375578823"
     variation       69
                     /replace="a"
                     /db_xref="dbSNP:146716820"
     variation       71
                     /replace="l"
                     /db_xref="dbSNP:1196561207"
     variation       72
                     /replace="f"
                     /db_xref="dbSNP:933465237"
     variation       73
                     /replace="l"
                     /db_xref="dbSNP:1167013949"
     variation       73
                     /replace="v"
                     /db_xref="dbSNP:765617625"
     variation       74
                     /replace="k"
                     /db_xref="dbSNP:1417088340"
     variation       74
                     /replace="q"
                     /db_xref="dbSNP:200897662"
     variation       74
                     /replace="r"
                     /db_xref="dbSNP:368638960"
     variation       75
                     /replace="q"
                     /db_xref="dbSNP:1306509572"
     variation       77
                     /replace="e"
                     /db_xref="dbSNP:1364817022"
     variation       77
                     /replace="g"
                     /db_xref="dbSNP:1303550279"
     variation       78
                     /replace="a"
                     /db_xref="dbSNP:751149899"
     variation       78
                     /replace="v"
                     /db_xref="dbSNP:539108157"
     variation       79
                     /replace="q"
                     /db_xref="dbSNP:754510424"
     variation       81
                     /replace="a"
                     /db_xref="dbSNP:781044222"
     variation       81
                     /replace="v"
                     /db_xref="dbSNP:1226933940"
     variation       82
                     /replace="q"
                     /db_xref="dbSNP:769544655"
     variation       82
                     /replace="r"
                     /db_xref="dbSNP:375583410"
     variation       83
                     /replace="s"
                     /db_xref="dbSNP:777630506"
     variation       84
                     /replace="f"
                     /db_xref="dbSNP:1291506212"
     Region          85..196
                     /region_name="Interaction with RAC1. {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       85
                     /replace="c"
                     /db_xref="dbSNP:1490000978"
     variation       85
                     /replace="d"
                     /db_xref="dbSNP:1219506504"
     variation       86
                     /replace="s"
                     /db_xref="dbSNP:749026901"
     variation       87
                     /replace="v"
                     /db_xref="dbSNP:1447116732"
     variation       88
                     /replace="l"
                     /db_xref="dbSNP:772301540"
     variation       88
                     /replace="s"
                     /db_xref="dbSNP:775649301"
     Site            88
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000250|UniProtKB:Q91ZM2};
                     propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       89
                     /replace="q"
                     /db_xref="dbSNP:769336898"
     variation       90
                     /replace="h"
                     /db_xref="dbSNP:149091795"
     variation       90
                     /replace="p"
                     /db_xref="dbSNP:371494286"
     variation       91
                     /replace="v"
                     /db_xref="dbSNP:1055620263"
     variation       92
                     /replace="q"
                     /db_xref="dbSNP:777058335"
     variation       93
                     /replace="t"
                     /db_xref="dbSNP:1409368831"
     variation       94
                     /replace="p"
                     /db_xref="dbSNP:1179393691"
     variation       95
                     /replace="l"
                     /db_xref="dbSNP:762374544"
     variation       96
                     /replace="r"
                     /db_xref="dbSNP:765593130"
     Site            96
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:18220336,
                     ECO:0000244|PubMed:18669648}; propagated from
                     UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       99
                     /replace="a"
                     /db_xref="dbSNP:144915924"
     variation       99
                     /replace="e"
                     /db_xref="dbSNP:144126859"
     Region          100..243
                     /region_name="Required for NGF signaling. {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       100
                     /replace="*"
                     /db_xref="dbSNP:1316326190"
     variation       101
                     /replace="v"
                     /db_xref="dbSNP:149033102"
     variation       102
                     /replace="*"
                     /db_xref="dbSNP:751235771"
     variation       102
                     /replace="s"
                     /db_xref="dbSNP:1449111831"
     variation       103
                     /replace="t"
                     /db_xref="dbSNP:1314776596"
     variation       105
                     /replace="g"
                     /db_xref="dbSNP:754504022"
     variation       106
                     /replace="l"
                     /db_xref="dbSNP:1242910664"
     variation       108
                     /replace="f"
                     /db_xref="dbSNP:930789088"
     variation       108
                     /replace="p"
                     /db_xref="dbSNP:780754138"
     variation       109
                     /replace="e"
                     /db_xref="dbSNP:1443776150"
     variation       109
                     /replace="g"
                     /db_xref="dbSNP:752084804"
     variation       109
                     /replace="k"
                     /db_xref="dbSNP:1203970243"
     variation       110
                     /replace="t"
                     /db_xref="dbSNP:756093541"
     variation       115
                     /replace="r"
                     /db_xref="dbSNP:1242273170"
     variation       116
                     /replace="a"
                     /db_xref="dbSNP:777641657"
     variation       117
                     /replace="l"
                     /db_xref="dbSNP:267604495"
     variation       118
                     /replace="d"
                     /db_xref="dbSNP:374431932"
     variation       118
                     /replace="t"
                     /db_xref="dbSNP:267604496"
     variation       119
                     /replace="e"
                     /db_xref="dbSNP:1156886952"
     variation       119
                     /replace="l"
                     /db_xref="dbSNP:1452968358"
     variation       120
                     /replace="l"
                     /db_xref="dbSNP:747219353"
     variation       121
                     /replace="g"
                     /db_xref="dbSNP:267604497"
     variation       121
                     /replace="v"
                     /db_xref="dbSNP:1404510321"
     variation       122
                     /replace="s"
                     /db_xref="dbSNP:1453147223"
     variation       123
                     /replace="p"
                     /db_xref="dbSNP:534972889"
     variation       124
                     /replace="g"
                     /db_xref="dbSNP:371537262"
     variation       124
                     /replace="l"
                     /db_xref="dbSNP:200118693"
     variation       124
                     /replace="r"
                     /db_xref="dbSNP:766836953"
     variation       125
                     /replace="s"
                     /db_xref="dbSNP:143095244"
     variation       126
                     /replace="f"
                     /db_xref="dbSNP:767023638"
     variation       126
                     /replace="p"
                     /db_xref="dbSNP:759234355"
     variation       127
                     /replace="g"
                     /db_xref="dbSNP:752277239"
     variation       129
                     /replace="l"
                     /db_xref="dbSNP:1481592027"
     variation       129
                     /replace="m"
                     /db_xref="dbSNP:975106862"
     variation       130
                     /replace="a"
                     /db_xref="dbSNP:543147238"
     variation       131
                     /replace="s"
                     /db_xref="dbSNP:764055155"
     variation       132
                     /replace="s"
                     /db_xref="dbSNP:1459715136"
     variation       134
                     /replace="-"
                     /db_xref="dbSNP:757982576"
     variation       134
                     /replace="a"
                     /db_xref="dbSNP:753749556"
     variation       135
                     /replace="c"
                     /db_xref="dbSNP:1418421019"
     variation       135
                     /replace="s"
                     /db_xref="dbSNP:201092427"
     variation       136
                     /replace="l"
                     /db_xref="dbSNP:1480782565"
     variation       136
                     /replace="p"
                     /db_xref="dbSNP:1379416438"
     variation       137
                     /replace="a"
                     /db_xref="dbSNP:757097612"
     variation       137
                     /replace="v"
                     /db_xref="dbSNP:12932462"
     variation       138
                     /replace="a"
                     /db_xref="dbSNP:1028741991"
     variation       139
                     /replace="f"
                     /db_xref="dbSNP:151165842"
     variation       139
                     /replace="s"
                     /db_xref="dbSNP:778674998"
     variation       140
                     /replace="f"
                     /db_xref="dbSNP:1299086904"
     variation       141
                     /replace="-"
                     /db_xref="dbSNP:779715835"
     variation       141
                     /replace="c"
                     /db_xref="dbSNP:745581801"
     variation       142
                     /replace="-"
                     /db_xref="dbSNP:1230149903"
     variation       142
                     /replace="a"
                     /db_xref="dbSNP:957249271"
     variation       142
                     /replace="t"
                     /db_xref="dbSNP:1390134212"
     variation       143
                     /replace="a"
                     /db_xref="dbSNP:755239754"
     variation       143
                     /replace="i"
                     /db_xref="dbSNP:112709391"
     variation       143
                     /replace="t"
                     /db_xref="dbSNP:781220450"
     variation       144
                     /replace="s"
                     /db_xref="dbSNP:748301005"
     variation       147
                     /replace="l"
                     /db_xref="dbSNP:779537768"
     variation       147
                     /replace="p"
                     /db_xref="dbSNP:1316975395"
     variation       148
                     /replace="k"
                     /db_xref="dbSNP:1320972448"
     variation       149
                     /replace="l"
                     /db_xref="dbSNP:749808758"
     variation       149
                     /replace="p"
                     /db_xref="dbSNP:908044370"
     variation       150
                     /replace="r"
                     /db_xref="dbSNP:141195883"
     variation       152
                     /replace="c"
                     /db_xref="dbSNP:202032080"
     variation       152
                     /replace="h"
                     /db_xref="dbSNP:759773702"
     variation       152
                     /replace="r"
                     /db_xref="dbSNP:1269318115"
     variation       154
                     /replace="f"
                     /db_xref="dbSNP:1406011506"
     variation       154
                     /replace="s"
                     /db_xref="dbSNP:1490497202"
     variation       155
                     /replace="l"
                     /db_xref="dbSNP:186154640"
     variation       156
                     /replace="c"
                     /db_xref="dbSNP:967717061"
     variation       156
                     /replace="h"
                     /db_xref="dbSNP:1198783948"
     variation       159
                     /replace="a"
                     /db_xref="dbSNP:1471179547"
     variation       160
                     /replace="c"
                     /db_xref="dbSNP:1427356472"
     variation       160
                     /replace="h"
                     /db_xref="dbSNP:767233616"
     variation       160
                     /replace="r"
                     /db_xref="dbSNP:1192893102"
     variation       161
                     /replace="c"
                     /db_xref="dbSNP:1428789802"
     variation       162
                     /replace="v"
                     /db_xref="dbSNP:1263402622"
     variation       163
                     /replace="e"
                     /db_xref="dbSNP:746477945"
     variation       163
                     /replace="q"
                     /db_xref="dbSNP:1460739551"
     variation       163
                     /replace="r"
                     /db_xref="dbSNP:760278146"
     variation       167
                     /replace="c"
                     /db_xref="dbSNP:763577217"
     variation       167
                     /replace="h"
                     /db_xref="dbSNP:1037748087"
     variation       169
                     /replace="i"
                     /db_xref="dbSNP:753839467"
     variation       170
                     /replace="l"
                     /db_xref="dbSNP:1265257964"
     variation       171
                     /replace="h"
                     /db_xref="dbSNP:1343155774"
     variation       171
                     /replace="l"
                     /db_xref="dbSNP:757189846"
     variation       172
                     /replace="r"
                     /db_xref="dbSNP:765100719"
     variation       173
                     /replace="q"
                     /db_xref="dbSNP:1306585861"
     variation       173
                     /replace="r"
                     /db_xref="dbSNP:543276258"
     variation       173
                     /replace="w"
                     /db_xref="dbSNP:750252825"
     variation       174
                     /replace="g"
                     /db_xref="dbSNP:1293756951"
     variation       175
                     /replace="a"
                     /db_xref="dbSNP:181294111"
     variation       175
                     /replace="t"
                     /db_xref="dbSNP:201556509"
     variation       176
                     /replace="i"
                     /db_xref="dbSNP:138441301"
     variation       177
                     /replace="d"
                     /db_xref="dbSNP:779250528"
     variation       178
                     /replace="l"
                     /db_xref="dbSNP:1261226218"
     variation       179
                     /replace="a"
                     /db_xref="dbSNP:746281351"
     variation       180
                     /replace="f"
                     /db_xref="dbSNP:144107554"
     variation       180
                     /replace="p"
                     /db_xref="dbSNP:1020133575"
     variation       181
                     /replace="s"
                     /db_xref="dbSNP:1386316081"
     variation       182
                     /replace="s"
                     /db_xref="dbSNP:558967163"
     variation       183
                     /replace="a"
                     /db_xref="dbSNP:776131757"
     variation       183
                     /replace="r"
                     /db_xref="dbSNP:768230842"
     variation       184
                     /replace="p"
                     /db_xref="dbSNP:765188806"
     variation       184
                     /replace="t"
                     /db_xref="dbSNP:761262829"
     variation       186
                     /replace="e"
                     /db_xref="dbSNP:750308392"
     variation       187
                     /replace="a"
                     /db_xref="dbSNP:528079443"
     variation       188
                     /replace="l"
                     /db_xref="dbSNP:751302305"
     variation       188
                     /replace="s"
                     /db_xref="dbSNP:756422196"
     variation       189
                     /replace="p"
                     /db_xref="dbSNP:907998148"
     variation       190
                     /replace="-"
                     /db_xref="dbSNP:1245011245"
     variation       190
                     /replace="g"
                     /db_xref="dbSNP:778096173"
     variation       191
                     /replace="t"
                     /db_xref="dbSNP:895698029"
     variation       192
                     /replace="t"
                     /db_xref="dbSNP:1443513436"
     variation       193
                     /replace="i"
                     /db_xref="dbSNP:1216500720"
     variation       194
                     /replace="l"
                     /db_xref="dbSNP:1184875947"
     variation       195
                     /replace="a"
                     /db_xref="dbSNP:748902831"
     variation       196
                     /replace="r"
                     /db_xref="dbSNP:1249720585"
     variation       196
                     /replace="v"
                     /db_xref="dbSNP:1485010153"
     variation       197
                     /replace="n"
                     /db_xref="dbSNP:1293000641"
     variation       198
                     /replace="g"
                     /db_xref="dbSNP:754005590"
     variation       199
                     /replace="i"
                     /db_xref="dbSNP:757383832"
     variation       200
                     /replace="s"
                     /db_xref="dbSNP:1444353004"
     variation       201
                     /replace="n"
                     /db_xref="dbSNP:1182156837"
     variation       202
                     /replace="f"
                     /db_xref="dbSNP:779520493"
     variation       203
                     /replace="f"
                     /db_xref="dbSNP:1401801204"
     variation       204
                     /replace="g"
                     /db_xref="dbSNP:367969323"
     variation       204
                     /replace="s"
                     /db_xref="dbSNP:1040639888"
     variation       205
                     /replace="r"
                     /db_xref="dbSNP:372038271"
     variation       206
                     /replace="a"
                     /db_xref="dbSNP:1338247108"
     variation       206
                     /replace="v"
                     /db_xref="dbSNP:780285886"
     variation       208
                     /replace="i"
                     /db_xref="dbSNP:868389015"
     variation       208
                     /replace="t"
                     /db_xref="dbSNP:541383976"
     variation       209
                     /replace="i"
                     /db_xref="dbSNP:1451568919"
     variation       209
                     /replace="v"
                     /db_xref="dbSNP:1032747035"
     variation       210
                     /replace="d"
                     /db_xref="dbSNP:776224704"
     variation       210
                     /replace="r"
                     /db_xref="dbSNP:768318561"
     variation       211
                     /replace="g"
                     /db_xref="dbSNP:761363118"
     variation       212
                     /replace="r"
                     /db_xref="dbSNP:1306361156"
     variation       215
                     /replace="t"
                     /db_xref="dbSNP:769174785"
     variation       217
                     /replace="a"
                     /db_xref="dbSNP:1315245940"
     variation       218
                     /replace="m"
                     /db_xref="dbSNP:1392337884"
     variation       218
                     /replace="t"
                     /db_xref="dbSNP:138736485"
     variation       219
                     /replace="s"
                     /db_xref="dbSNP:762803968"
     variation       220
                     /replace="p"
                     /db_xref="dbSNP:1461050197"
     variation       221
                     /replace="g"
                     /db_xref="dbSNP:1202094900"
     Region          224..233
                     /region_name="Required for nuclear localization.
                     {ECO:0000250}"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       224
                     /replace="r"
                     /db_xref="dbSNP:766285600"
     variation       225
                     /replace="a"
                     /db_xref="dbSNP:1470785600"
     variation       225
                     /replace="i"
                     /db_xref="dbSNP:1165002031"
     variation       226
                     /replace="h"
                     /db_xref="dbSNP:149345980"
     variation       227
                     /replace="c"
                     /db_xref="dbSNP:773476319"
     variation       227
                     /replace="h"
                     /db_xref="dbSNP:201621467"
     variation       230
                     /replace="r"
                     /db_xref="dbSNP:747346709"
     variation       232
                     /replace="r"
                     /db_xref="dbSNP:1002786565"
     variation       235
                     /replace="q"
                     /db_xref="dbSNP:758842219"
     variation       235
                     /replace="r"
                     /db_xref="dbSNP:144659309"
     variation       235
                     /replace="w"
                     /db_xref="dbSNP:750446806"
     variation       236
                     /replace="a"
                     /db_xref="dbSNP:1356116299"
     variation       236
                     /replace="g"
                     /db_xref="dbSNP:747403658"
     variation       237
                     /replace="r"
                     /db_xref="dbSNP:755303391"
     variation       238
                     /replace="c"
                     /db_xref="dbSNP:1265065081"
     variation       238
                     /replace="d"
                     /db_xref="dbSNP:960723645"
     variation       238
                     /replace="g"
                     /db_xref="dbSNP:780881879"
     variation       239
                     /replace="a"
                     /db_xref="dbSNP:772611715"
     variation       239
                     /replace="s"
                     /db_xref="dbSNP:769421511"
     variation       242
                     /replace="e"
                     /db_xref="dbSNP:1438709096"
     variation       242
                     /replace="g"
                     /db_xref="dbSNP:142816591"
     variation       242
                     /replace="n"
                     /db_xref="dbSNP:1221967366"
     variation       244
                     /replace="g"
                     /db_xref="dbSNP:774401745"
     variation       244
                     /replace="s"
                     /db_xref="dbSNP:770809673"
     Region          246..378
                     /region_name="PH_SH2B_family"
                     /note="SH2B adapter protein 1, 2, and 3 Pleckstrin
                     homology (PH) domain; cd01231"
                     /db_xref="CDD:269938"
     variation       246
                     /replace="i"
                     /db_xref="dbSNP:867021138"
     variation       246
                     /replace="v"
                     /db_xref="dbSNP:759456328"
     variation       249
                     /replace="m"
                     /db_xref="dbSNP:767403205"
     variation       250
                     /replace="e"
                     /db_xref="dbSNP:777056963"
     variation       251
                     /replace="g"
                     /db_xref="dbSNP:762126837"
     variation       251
                     /replace="q"
                     /db_xref="dbSNP:1224831748"
     variation       256
                     /replace="i"
                     /db_xref="dbSNP:765438636"
     variation       256
                     /replace="t"
                     /db_xref="dbSNP:1348545218"
     variation       259
                     /replace="k"
                     /db_xref="dbSNP:750491797"
     variation       262
                     /replace="t"
                     /db_xref="dbSNP:1170492482"
     variation       263
                     /replace="s"
                     /db_xref="dbSNP:199996405"
     variation       264
                     /replace="d"
                     /db_xref="dbSNP:1410278333"
     variation       264
                     /replace="v"
                     /db_xref="dbSNP:1240326581"
     variation       266
                     /replace="a"
                     /db_xref="dbSNP:1352626204"
     variation       266
                     /replace="p"
                     /db_xref="dbSNP:1327955209"
     variation       267
                     /replace="r"
                     /db_xref="dbSNP:752049196"
     variation       269
                     /replace="r"
                     /db_xref="dbSNP:755403934"
     variation       269
                     /replace="v"
                     /db_xref="dbSNP:1365826803"
     variation       270
                     /replace="g"
                     /db_xref="dbSNP:561413284"
     variation       270
                     /replace="q"
                     /db_xref="dbSNP:748454799"
     Site            270
                     /site_type="methylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Omega-N-methylarginine.
                     {ECO:0000244|PubMed:24129315}; propagated from
                     UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       273
                     /replace="e"
                     /db_xref="dbSNP:755747789"
     variation       273
                     /replace="g"
                     /db_xref="dbSNP:777446588"
     variation       273
                     /replace="w"
                     /db_xref="dbSNP:962504640"
     variation       274
                     /replace="l"
                     /db_xref="dbSNP:748792237"
     variation       275
                     /replace="s"
                     /db_xref="dbSNP:770456497"
     variation       275
                     /replace="v"
                     /db_xref="dbSNP:774485420"
     variation       276
                     /replace="e"
                     /db_xref="dbSNP:1427110078"
     variation       276
                     /replace="g"
                     /db_xref="dbSNP:61739639"
     variation       277
                     /replace="s"
                     /db_xref="dbSNP:1198498980"
     variation       278
                     /replace="p"
                     /db_xref="dbSNP:1268944924"
     variation       280
                     /replace="a"
                     /db_xref="dbSNP:772063932"
     variation       280
                     /replace="r"
                     /db_xref="dbSNP:745793441"
     variation       281
                     /replace="e"
                     /db_xref="dbSNP:775436189"
     variation       281
                     /replace="g"
                     /db_xref="dbSNP:908072309"
     variation       283
                     /replace="e"
                     /db_xref="dbSNP:1475541480"
     variation       284
                     /replace="r"
                     /db_xref="dbSNP:1368487552"
     variation       284
                     /replace="s"
                     /db_xref="dbSNP:867780049"
     variation       286
                     /replace="r"
                     /db_xref="dbSNP:1189732136"
     variation       290
                     /replace="s"
                     /db_xref="dbSNP:764038108"
     variation       291
                     /replace="c"
                     /db_xref="dbSNP:760468436"
     variation       291
                     /replace="h"
                     /db_xref="dbSNP:765409318"
     variation       292
                     /replace="l"
                     /db_xref="dbSNP:1426437371"
     variation       293
                     /replace="l"
                     /db_xref="dbSNP:1364906934"
     variation       293
                     /replace="v"
                     /db_xref="dbSNP:940835451"
     variation       294
                     /replace="l"
                     /db_xref="dbSNP:1283707840"
     variation       295
                     /replace="q"
                     /db_xref="dbSNP:1320370221"
     variation       295
                     /replace="r"
                     /db_xref="dbSNP:1403619005"
     variation       296
                     /replace="g"
                     /db_xref="dbSNP:1327243679"
     variation       297
                     /replace="-"
                     /db_xref="dbSNP:780956377"
     variation       297
                     /replace="k"
                     /db_xref="dbSNP:376636483"
     variation       298
                     /replace="-"
                     /db_xref="dbSNP:748179941"
     variation       298
                     /replace="r"
                     /db_xref="dbSNP:762991282"
     variation       299
                     /replace="-"
                     /db_xref="dbSNP:754568358"
     variation       299
                     /replace="-"
                     /db_xref="dbSNP:769460672"
     variation       299
                     /replace="g"
                     /db_xref="dbSNP:1428278950"
     variation       299
                     /replace="k"
                     /db_xref="dbSNP:766443424"
     variation       301
                     /replace="e"
                     /db_xref="dbSNP:751574107"
     variation       301
                     /replace="g"
                     /db_xref="dbSNP:367589780"
     variation       302
                     /replace="e"
                     /db_xref="dbSNP:1207487289"
     variation       302
                     /replace="g"
                     /db_xref="dbSNP:201989715"
     variation       303
                     /replace="-"
                     /db_xref="dbSNP:773080705"
     variation       303
                     /replace="g"
                     /db_xref="dbSNP:1284834901"
     variation       303
                     /replace="r"
                     /db_xref="dbSNP:753095434"
     variation       304
                     /replace="-"
                     /db_xref="dbSNP:749098352"
     variation       305
                     /replace="h"
                     /db_xref="dbSNP:531830628"
     variation       306
                     /replace="l"
                     /db_xref="dbSNP:756473866"
     variation       308
                     /replace="l"
                     /db_xref="dbSNP:1050532578"
     variation       310
                     /replace="e"
                     /db_xref="dbSNP:777342427"
     variation       310
                     /replace="v"
                     /db_xref="dbSNP:1456387513"
     variation       311
                     /replace="s"
                     /db_xref="dbSNP:1184536578"
     Region          <312..376
                     /region_name="PH"
                     /note="PH domain; pfam00169"
                     /db_xref="CDD:278594"
     variation       312
                     /replace="l"
                     /db_xref="dbSNP:1385818875"
     variation       313
                     /replace="r"
                     /db_xref="dbSNP:1160354512"
     variation       314
                     /replace="v"
                     /db_xref="dbSNP:1197364141"
     variation       316
                     /replace="q"
                     /db_xref="dbSNP:756979905"
     variation       316
                     /replace="w"
                     /db_xref="dbSNP:754082502"
     variation       317
                     /replace="l"
                     /db_xref="dbSNP:867936766"
     variation       317
                     /replace="p"
                     /db_xref="dbSNP:1180103773"
     variation       318
                     /replace="q"
                     /db_xref="dbSNP:1431616488"
     variation       322
                     /replace="s"
                     /db_xref="dbSNP:935907949"
     variation       324
                     /replace="p"
                     /db_xref="dbSNP:1363960878"
     variation       324
                     /replace="s"
                     /db_xref="dbSNP:1302712157"
     variation       325
                     /replace="c"
                     /db_xref="dbSNP:1480874952"
     variation       326
                     /replace="v"
                     /db_xref="dbSNP:556914868"
     variation       329
                     /replace="i"
                     /db_xref="dbSNP:1376153409"
     variation       330
                     /replace="q"
                     /db_xref="dbSNP:757950448"
     variation       330
                     /replace="w"
                     /db_xref="dbSNP:369196090"
     variation       331
                     /replace="t"
                     /db_xref="dbSNP:780187395"
     variation       338
                     /replace="l"
                     /db_xref="dbSNP:751333768"
     variation       338
                     /replace="s"
                     /db_xref="dbSNP:576962727"
     variation       340
                     /replace="q"
                     /db_xref="dbSNP:781056810"
     variation       340
                     /replace="w"
                     /db_xref="dbSNP:768412345"
     variation       343
                     /replace="m"
                     /db_xref="dbSNP:139298340"
     variation       343
                     /replace="t"
                     /db_xref="dbSNP:757127519"
     variation       345
                     /replace="m"
                     /db_xref="dbSNP:947055242"
     variation       346
                     /replace="i"
                     /db_xref="dbSNP:372521485"
     variation       351
                     /replace="a"
                     /db_xref="dbSNP:1163449719"
     variation       351
                     /replace="p"
                     /db_xref="dbSNP:1347661704"
     variation       352
                     /replace="s"
                     /db_xref="dbSNP:772213283"
     variation       352
                     /replace="y"
                     /db_xref="dbSNP:202232458"
     variation       353
                     /replace="e"
                     /db_xref="dbSNP:769233413"
     variation       353
                     /replace="k"
                     /db_xref="dbSNP:747007890"
     variation       356
                     /replace="i"
                     /db_xref="dbSNP:770447023"
     variation       356
                     /replace="t"
                     /db_xref="dbSNP:762317037"
     variation       356
                     /replace="v"
                     /db_xref="dbSNP:776972338"
     variation       357
                     /replace="g"
                     /db_xref="dbSNP:1024236509"
     variation       358
                     /replace="t"
                     /db_xref="dbSNP:1360527612"
     variation       359
                     /replace="e"
                     /db_xref="dbSNP:1310621489"
     variation       359
                     /replace="m"
                     /db_xref="dbSNP:1227721197"
     variation       359
                     /replace="v"
                     /db_xref="dbSNP:144175795"
     variation       360
                     /replace="e"
                     /db_xref="dbSNP:773064434"
     variation       363
                     /replace="l"
                     /db_xref="dbSNP:1463719713"
     variation       363
                     /replace="y"
                     /db_xref="dbSNP:373484390"
     variation       365
                     /replace="k"
                     /db_xref="dbSNP:765899885"
     variation       366
                     /replace="v"
                     /db_xref="dbSNP:1244198869"
     variation       369
                     /replace="f"
                     /db_xref="dbSNP:1483196663"
     variation       371
                     /replace="l"
                     /db_xref="dbSNP:751114220"
     variation       373
                     /replace="e"
                     /db_xref="dbSNP:754416028"
     variation       375
                     /replace="r"
                     /db_xref="dbSNP:767542567"
     variation       376
                     /replace="g"
                     /db_xref="dbSNP:752619449"
     variation       376
                     /replace="n"
                     /db_xref="dbSNP:755974041"
     variation       377
                     /replace="l"
                     /db_xref="dbSNP:777552083"
     variation       379
                     /replace="h"
                     /db_xref="dbSNP:763966990"
     variation       381
                     /replace="a"
                     /db_xref="dbSNP:753661837"
     variation       383
                     /replace="a"
                     /db_xref="dbSNP:756968357"
     variation       384
                     /replace="i"
                     /db_xref="dbSNP:780371977"
     variation       384
                     /replace="r"
                     /db_xref="dbSNP:1207912814"
     variation       385
                     /replace="l"
                     /db_xref="dbSNP:751716247"
     variation       385
                     /replace="s"
                     /db_xref="dbSNP:868399722"
     variation       386
                     /replace="c"
                     /db_xref="dbSNP:1481756150"
     variation       386
                     /replace="h"
                     /db_xref="dbSNP:202043130"
     variation       386
                     /replace="r"
                     /db_xref="dbSNP:1246858442"
     variation       387
                     /replace="p"
                     /db_xref="dbSNP:1189238964"
     variation       387
                     /replace="t"
                     /db_xref="dbSNP:781425776"
     variation       388
                     /replace="v"
                     /db_xref="dbSNP:200233389"
     variation       389
                     /replace="n"
                     /db_xref="dbSNP:770455223"
     variation       390
                     /replace="l"
                     /db_xref="dbSNP:749720837"
     variation       390
                     /replace="v"
                     /db_xref="dbSNP:778394787"
     variation       391
                     /replace="s"
                     /db_xref="dbSNP:771189902"
     variation       393
                     /replace="a"
                     /db_xref="dbSNP:376548199"
     variation       394
                     /replace="r"
                     /db_xref="dbSNP:1255636667"
     variation       396
                     /replace="a"
                     /db_xref="dbSNP:1330725330"
     variation       397
                     /replace="t"
                     /db_xref="dbSNP:774121810"
     variation       399
                     /replace="f"
                     /db_xref="dbSNP:759119592"
     variation       400
                     /replace="a"
                     /db_xref="dbSNP:375155971"
     variation       400
                     /replace="i"
                     /db_xref="dbSNP:1228150342"
     variation       401
                     /replace="k"
                     /db_xref="dbSNP:372247168"
     variation       404
                     /replace="a"
                     /db_xref="dbSNP:760134373"
     variation       405
                     /replace="a"
                     /db_xref="dbSNP:764056776"
     variation       405
                     /replace="n"
                     /db_xref="dbSNP:1224061221"
     variation       406
                     /replace="s"
                     /db_xref="dbSNP:1048400801"
     variation       407
                     /replace="l"
                     /db_xref="dbSNP:1235034305"
     variation       408
                     /replace="e"
                     /db_xref="dbSNP:753749705"
     variation       409
                     /replace="r"
                     /db_xref="dbSNP:1295990396"
     variation       410
                     /replace="a"
                     /db_xref="dbSNP:761723468"
     variation       410
                     /replace="c"
                     /db_xref="dbSNP:115698674"
     variation       411
                     /replace="s"
                     /db_xref="dbSNP:750165122"
     variation       412
                     /replace="l"
                     /db_xref="dbSNP:755168913"
     variation       414
                     /replace="y"
                     /db_xref="dbSNP:867313079"
     variation       415
                     /replace="l"
                     /db_xref="dbSNP:781524149"
     variation       415
                     /replace="s"
                     /db_xref="dbSNP:752866915"
     Site            417
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000250|UniProtKB:Q91ZM2};
                     propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       418
                     /replace="l"
                     /db_xref="dbSNP:1464290121"
     variation       418
                     /replace="l"
                     /db_xref="dbSNP:35895052"
     variation       419
                     /replace="r"
                     /db_xref="dbSNP:778484664"
     variation       420
                     /replace="g"
                     /db_xref="dbSNP:749756356"
     Site            420
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000250|UniProtKB:Q91ZM2};
                     propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       422
                     /replace="e"
                     /db_xref="dbSNP:1045024791"
     variation       423
                     /replace="v"
                     /db_xref="dbSNP:771407028"
     variation       424
                     /replace="l"
                     /db_xref="dbSNP:779162598"
     variation       424
                     /replace="p"
                     /db_xref="dbSNP:746191403"
     variation       428
                     /replace="n"
                     /db_xref="dbSNP:1385605826"
     variation       428
                     /replace="s"
                     /db_xref="dbSNP:771739250"
     variation       429
                     /replace="k"
                     /db_xref="dbSNP:201309896"
     variation       430
                     /replace="t"
                     /db_xref="dbSNP:537530500"
     variation       431
                     /replace="h"
                     /db_xref="dbSNP:1226140456"
     variation       433
                     /replace="c"
                     /db_xref="dbSNP:768139019"
     variation       433
                     /replace="h"
                     /db_xref="dbSNP:139482254"
     variation       435
                     /replace="l"
                     /db_xref="dbSNP:557776551"
     variation       435
                     /replace="s"
                     /db_xref="dbSNP:765163246"
     variation       436
                     /replace="*"
                     /db_xref="dbSNP:1462571345"
     variation       436
                     /replace="r"
                     /db_xref="dbSNP:762779258"
     variation       438
                     /replace="a"
                     /db_xref="dbSNP:886191087"
     variation       438
                     /replace="g"
                     /db_xref="dbSNP:1219390235"
     variation       438
                     /replace="p"
                     /db_xref="dbSNP:768228879"
     variation       439
                     /replace="h"
                     /db_xref="dbSNP:372553280"
     Site            439
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine, by JAK1, JAK2 and PDGFR.
                     {ECO:0000250|UniProtKB:Q62985}; propagated from
                     UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       440
                     /replace="w"
                     /db_xref="dbSNP:1373471730"
     variation       441
                     /replace="a"
                     /db_xref="dbSNP:560989422"
     variation       441
                     /replace="s"
                     /db_xref="dbSNP:747644685"
     variation       442
                     /replace="f"
                     /db_xref="dbSNP:1400689245"
     variation       443
                     /replace="l"
                     /db_xref="dbSNP:769661362"
     variation       444
                     /replace="n"
                     /db_xref="dbSNP:907878994"
     variation       445
                     /replace="c"
                     /db_xref="dbSNP:773181641"
     variation       445
                     /replace="h"
                     /db_xref="dbSNP:766274908"
     variation       445
                     /replace="r"
                     /db_xref="dbSNP:1286003295"
     variation       446
                     /replace="p"
                     /db_xref="dbSNP:774224296"
     variation       447
                     /replace="l"
                     /db_xref="dbSNP:760994748"
     variation       447
                     /replace="s"
                     /db_xref="dbSNP:529774248"
     variation       449
                     /replace="f"
                     /db_xref="dbSNP:753891639"
     variation       449
                     /replace="s"
                     /db_xref="dbSNP:757325303"
     variation       451
                     /replace="f"
                     /db_xref="dbSNP:765710020"
     variation       451
                     /replace="s"
                     /db_xref="dbSNP:1482439488"
     variation       452
                     /replace="p"
                     /db_xref="dbSNP:1482742037"
     variation       453
                     /replace="g"
                     /db_xref="dbSNP:750925782"
     variation       455
                     /replace="a"
                     /db_xref="dbSNP:1004599998"
     variation       458
                     /replace="a"
                     /db_xref="dbSNP:762753586"
     variation       458
                     /replace="s"
                     /db_xref="dbSNP:1271239532"
     variation       459
                     /replace="t"
                     /db_xref="dbSNP:758827783"
     variation       460
                     /replace="s"
                     /db_xref="dbSNP:1376323415"
     variation       463
                     /replace="g"
                     /db_xref="dbSNP:780399359"
     variation       464
                     /replace="s"
                     /db_xref="dbSNP:747315618"
     variation       464
                     /replace="w"
                     /db_xref="dbSNP:779441545"
     variation       465
                     /replace="-"
                     /db_xref="dbSNP:750749390"
     variation       465
                     /replace="t"
                     /db_xref="dbSNP:200463987"
     variation       466
                     /replace="k"
                     /db_xref="dbSNP:780866829"
     variation       470
                     /replace="p"
                     /db_xref="dbSNP:747661965"
     variation       471
                     /replace="d"
                     /db_xref="dbSNP:769335457"
     variation       473
                     /replace="l"
                     /db_xref="dbSNP:749245026"
     variation       473
                     /replace="p"
                     /db_xref="dbSNP:770937579"
     variation       474
                     /replace="h"
                     /db_xref="dbSNP:1482528342"
     variation       474
                     /replace="p"
                     /db_xref="dbSNP:377234517"
     variation       475
                     /replace="c"
                     /db_xref="dbSNP:759368706"
     variation       475
                     /replace="p"
                     /db_xref="dbSNP:758789437"
     variation       475
                     /replace="p"
                     /db_xref="dbSNP:768796500"
     variation       475
                     /replace="r"
                     /db_xref="dbSNP:1313614039"
     variation       476
                     /replace="i"
                     /db_xref="dbSNP:563288232"
     variation       476
                     /replace="l"
                     /db_xref="dbSNP:776887448"
     variation       476
                     /replace="p"
                     /db_xref="dbSNP:1203110809"
     variation       476
                     /replace="t"
                     /db_xref="dbSNP:761852744"
     variation       477
                     /replace="p"
                     /db_xref="dbSNP:750400581"
     variation       478
                     /replace="i"
                     /db_xref="dbSNP:763462635"
     variation       478
                     /replace="l"
                     /db_xref="dbSNP:1265558649"
     variation       482
                     /replace="s"
                     /db_xref="dbSNP:369173659"
     variation       483
                     /replace="p"
                     /db_xref="dbSNP:1390096535"
     variation       484
                     /replace="a"
                     /db_xref="dbSNP:7498665"
     variation       484
                     /replace="i"
                     /db_xref="dbSNP:752391959"
     variation       485
                     /replace="r"
                     /db_xref="dbSNP:1378270279"
     variation       486
                     /replace="r"
                     /db_xref="dbSNP:1303232193"
     variation       488
                     /replace="p"
                     /db_xref="dbSNP:755657868"
     variation       488
                     /replace="q"
                     /db_xref="dbSNP:551663155"
     variation       490
                     /replace="f"
                     /db_xref="dbSNP:748762202"
     variation       492
                     /replace="a"
                     /db_xref="dbSNP:1168880336"
     variation       492
                     /replace="g"
                     /db_xref="dbSNP:1397805027"
     variation       493
                     /replace="l"
                     /db_xref="dbSNP:867376966"
     variation       493
                     /replace="s"
                     /db_xref="dbSNP:141233195"
     variation       494
                     /replace="c"
                     /db_xref="dbSNP:1055635368"
     variation       494
                     /replace="y"
                     /db_xref="dbSNP:1321060372"
     Site            494
                     /site_type="phosphorylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphotyrosine, by JAK1, JAK2.
                     {ECO:0000250|UniProtKB:Q62985}; propagated from
                     UniProtKB/Swiss-Prot (Q9NRF2.3)"
     variation       495
                     /replace="l"
                     /db_xref="dbSNP:199700088"
     variation       495
                     /replace="t"
                     /db_xref="dbSNP:1397605276"
     variation       496
                     /replace="p"
                     /db_xref="dbSNP:771883611"
     variation       499
                     /replace="a"
                     /db_xref="dbSNP:776783680"
     variation       499
                     /replace="t"
                     /db_xref="dbSNP:762098568"
     variation       500
                     /replace="l"
                     /db_xref="dbSNP:1322350878"
     variation       500
                     /replace="p"
                     /db_xref="dbSNP:1244172103"
     variation       502
                     /replace="p"
                     /db_xref="dbSNP:769849916"
     variation       503
                     /replace="g"
                     /db_xref="dbSNP:1330494635"
     variation       503
                     /replace="s"
                     /db_xref="dbSNP:1484466440"
     variation       504
                     /replace="i"
                     /db_xref="dbSNP:773301182"
     variation       506
                     /replace="c"
                     /db_xref="dbSNP:1359657966"
     variation       507
                     /replace="s"
                     /db_xref="dbSNP:767866293"
     variation       507
                     /replace="v"
                     /db_xref="dbSNP:760104429"
     variation       508
                     /replace="l"
                     /db_xref="dbSNP:1352369053"
     variation       508
                     /replace="v"
                     /db_xref="dbSNP:1451585460"
     variation       510
                     /replace="q"
                     /db_xref="dbSNP:775958552"
     variation       511
                     /replace="r"
                     /db_xref="dbSNP:146946750"
     variation       512
                     /replace="k"
                     /db_xref="dbSNP:1221291956"
     variation       512
                     /replace="s"
                     /db_xref="dbSNP:1410542268"
     variation       514
                     /replace="d"
                     /db_xref="dbSNP:763884189"
     variation       514
                     /replace="q"
                     /db_xref="dbSNP:893059694"
     variation       515
                     /replace="d"
                     /db_xref="dbSNP:1387608850"
     variation       515
                     /replace="g"
                     /db_xref="dbSNP:370851725"
     variation       516
                     /replace="s"
                     /db_xref="dbSNP:756892017"
     Region          518..614
                     /region_name="SH2_SH2B_family"
                     /note="Src homology 2 (SH2) domain found in SH2B adapter
                     protein family; cd10346"
                     /db_xref="CDD:198209"
     variation       519
                     /replace="a"
                     /db_xref="dbSNP:749842923"
     variation       519
                     /replace="d"
                     /db_xref="dbSNP:1182271684"
     variation       519
                     /replace="y"
                     /db_xref="dbSNP:764841067"
     variation       520
                     /replace="h"
                     /db_xref="dbSNP:1250602894"
     variation       521
                     /replace="p"
                     /db_xref="dbSNP:1192684549"
     variation       521
                     /replace="r"
                     /db_xref="dbSNP:758381325"
     variation       522
                     /replace="l"
                     /db_xref="dbSNP:538986621"
     variation       523
                     /replace="p"
                     /db_xref="dbSNP:754716331"
     variation       524
                     /replace="g"
                     /db_xref="dbSNP:1173805486"
     variation       525
                     /replace="h"
                     /db_xref="dbSNP:1022288144"
     variation       526
                     /replace="a"
                     /db_xref="dbSNP:1430414099"
     variation       526
                     /replace="p"
                     /db_xref="dbSNP:1193379715"
     variation       528
                     /replace="s"
                     /db_xref="dbSNP:899531825"
     variation       529
                     /replace="h"
                     /db_xref="dbSNP:558908130"
     variation       533
                     /replace="s"
                     /db_xref="dbSNP:1421110365"
     Site            order(534,555,576,578)
                     /site_type="other"
                     /note="phosphotyrosine binding pocket [polypeptide
                     binding]"
                     /db_xref="CDD:198209"
     variation       534
                     /replace="p"
                     /db_xref="dbSNP:756230272"
     variation       534
                     /replace="r"
                     /db_xref="dbSNP:1438940561"
     variation       534
                     /replace="r"
                     /db_xref="dbSNP:749517917"
     variation       536
                     /replace="k"
                     /db_xref="dbSNP:771085300"
     variation       540
                     /replace="l"
                     /db_xref="dbSNP:572342531"
     variation       541
                     /replace="a"
                     /db_xref="dbSNP:17850682"
     variation       544
                     /replace="g"
                     /db_xref="dbSNP:534843240"
     variation       545
                     /replace="g"
                     /db_xref="dbSNP:775842754"
     variation       545
                     /replace="s"
                     /db_xref="dbSNP:772678200"
     variation       546
                     /replace="i"
                     /db_xref="dbSNP:764546280"
     variation       547
                     /replace="d"
                     /db_xref="dbSNP:1035098086"
     variation       547
                     /replace="g"
                     /db_xref="dbSNP:1273346621"
     variation       548
                     /replace="a"
                     /db_xref="dbSNP:777066801"
     variation       549
                     /replace="h"
                     /db_xref="dbSNP:1009035749"
     variation       549
                     /replace="p"
                     /db_xref="dbSNP:899594090"
     variation       551
                     /replace="v"
                     /db_xref="dbSNP:1316203180"
     variation       554
                     /replace="ghl"
                     /db_xref="dbSNP:1246947609"
     variation       555
                     /replace="h"
                     /db_xref="dbSNP:761568812"
     variation       556
                     /replace="h"
                     /db_xref="dbSNP:375576353"
     variation       559
                     /replace="s"
                     /db_xref="dbSNP:1014940473"
     variation       561
                     /replace="q"
                     /db_xref="dbSNP:749978993"
     variation       561
                     /replace="r"
                     /db_xref="dbSNP:200801299"
     variation       562
                     /replace="g"
                     /db_xref="dbSNP:879224496"
     variation       564
                     /replace="y"
                     /db_xref="dbSNP:199667556"
     variation       566
                     /replace="l"
                     /db_xref="dbSNP:1417513073"
     variation       567
                     /replace="t"
                     /db_xref="dbSNP:751447970"
     variation       569
                     /replace="n"
                     /db_xref="dbSNP:138360008"
     variation       570
                     /replace="f"
                     /db_xref="dbSNP:1349518694"
     variation       571
                     /replace="r"
                     /db_xref="dbSNP:1434754340"
     variation       573
                     /replace="k"
                     /db_xref="dbSNP:780979948"
     Site            order(577,604)
                     /site_type="other"
                     /note="hydrophobic binding pocket [polypeptide binding]"
                     /db_xref="CDD:198209"
     variation       577
                     /replace="v"
                     /db_xref="dbSNP:1338764986"
     variation       578
                     /replace="c"
                     /db_xref="dbSNP:1316782705"
     variation       580
                     /replace="l"
                     /db_xref="dbSNP:373897209"
     variation       580
                     /replace="s"
                     /db_xref="dbSNP:1011488497"
     variation       582
                     /replace="n"
                     /db_xref="dbSNP:765810304"
     variation       583
                     /replace="d"
                     /db_xref="dbSNP:759490537"
     variation       583
                     /replace="k"
                     /db_xref="dbSNP:751023173"
     variation       584
                     /replace="a"
                     /db_xref="dbSNP:767400362"
     variation       586
                     /replace="h"
                     /db_xref="dbSNP:755877830"
     variation       586
                     /replace="r"
                     /db_xref="dbSNP:369648696"
     variation       587
                     /replace="c"
                     /db_xref="dbSNP:1041599035"
     variation       588
                     /replace="w"
                     /db_xref="dbSNP:779249384"
     variation       590
                     /replace="r"
                     /db_xref="dbSNP:1235345459"
     variation       591
                     /replace="h"
                     /db_xref="dbSNP:866807028"
     variation       592
                     /replace="l"
                     /db_xref="dbSNP:750610428"
     variation       593
                     /replace="*"
                     /db_xref="dbSNP:1050670893"
     variation       596
                     /replace="s"
                     /db_xref="dbSNP:758583898"
     variation       597
                     /replace="v"
                     /db_xref="dbSNP:1284949926"
     variation       598
                     /replace="f"
                     /db_xref="dbSNP:368371748"
     variation       599
                     /replace="d"
                     /db_xref="dbSNP:890728356"
     variation       601
                     /replace="l"
                     /db_xref="dbSNP:527954657"
     variation       602
                     /replace="k"
                     /db_xref="dbSNP:769320203"
     variation       603
                     /replace="q"
                     /db_xref="dbSNP:1184553660"
     variation       605
                     /replace="q"
                     /db_xref="dbSNP:1380677706"
     variation       607
                     /replace="r"
                     /db_xref="dbSNP:781756097"
     variation       608
                     /replace="a"
                     /db_xref="dbSNP:748572317"
     variation       610
                     /replace="s"
                     /db_xref="dbSNP:755404374"
     variation       611
                     /replace="l"
                     /db_xref="dbSNP:770269372"
     variation       612
                     /replace="d"
                     /db_xref="dbSNP:1404969720"
     variation       613
                     /replace="l"
                     /db_xref="dbSNP:773558526"
     variation       613
                     /replace="s"
                     /db_xref="dbSNP:898034634"
     variation       614
                     /replace="g"
                     /db_xref="dbSNP:1198204260"
     variation       615
                     /replace="s"
                     /db_xref="dbSNP:762525063"
     variation       616
                     /replace="c"
                     /db_xref="dbSNP:1028181866"
     variation       616
                     /replace="p"
                     /db_xref="dbSNP:142515048"
     variation       618
                     /replace="d"
                     /db_xref="dbSNP:773762545"
     variation       618
                     /replace="n"
                     /db_xref="dbSNP:1215051112"
     variation       619
                     /replace="a"
                     /db_xref="dbSNP:1350736878"
     variation       620
                     /replace="-"
                     /db_xref="dbSNP:1412414628"
     variation       622
                     /replace="i"
                     /db_xref="dbSNP:143410496"
     variation       623
                     /replace="g"
                     /db_xref="dbSNP:759012531"
     variation       624
                     /replace="c"
                     /db_xref="dbSNP:1346994250"
     variation       625
                     /replace="i"
                     /db_xref="dbSNP:371836089"
     variation       627
                     /replace="s"
                     /db_xref="dbSNP:752613223"
     variation       630
                     /replace="g"
                     /db_xref="dbSNP:1225114058"
     variation       630
                     /replace="q"
                     /db_xref="dbSNP:760535051"
     variation       633
                     /replace="g"
                     /db_xref="dbSNP:1323004426"
     variation       634
                     /replace="q"
                     /db_xref="dbSNP:530325833"
     variation       634
                     /replace="r"
                     /db_xref="dbSNP:771657781"
     variation       637
                     /replace="a"
                     /db_xref="dbSNP:768518369"
     variation       637
                     /replace="t"
                     /db_xref="dbSNP:1335121236"
     variation       638
                     /replace="g"
                     /db_xref="dbSNP:1257708069"
     variation       638
                     /replace="r"
                     /db_xref="dbSNP:776610624"
     variation       639
                     /replace="n"
                     /db_xref="dbSNP:1423923489"
     variation       641
                     /replace="a"
                     /db_xref="dbSNP:769627655"
     variation       641
                     /replace="t"
                     /db_xref="dbSNP:1186721264"
     variation       641
                     /replace="v"
                     /db_xref="dbSNP:761572337"
     variation       642
                     /replace="e"
                     /db_xref="dbSNP:377480680"
     variation       642
                     /replace="g"
                     /db_xref="dbSNP:1159720362"
     variation       642
                     /replace="r"
                     /db_xref="dbSNP:1458559319"
     variation       643
                     /replace="a"
                     /db_xref="dbSNP:1451589036"
     variation       643
                     /replace="l"
                     /db_xref="dbSNP:1344524193"
     variation       643
                     /replace="v"
                     /db_xref="dbSNP:1045873162"
     variation       644
                     /replace="c"
                     /db_xref="dbSNP:759859441"
     variation       644
                     /replace="w"
                     /db_xref="dbSNP:780809764"
     variation       644
                     /replace="y"
                     /db_xref="dbSNP:1304541037"
     variation       645
                     /replace="k"
                     /db_xref="dbSNP:767805857"
     variation       646
                     /replace="g"
                     /db_xref="dbSNP:1352630885"
     variation       646
                     /replace="v"
                     /db_xref="dbSNP:752862868"
     variation       647
                     /replace="n"
                     /db_xref="dbSNP:1229381332"
     variation       648
                     /replace="e"
                     /db_xref="dbSNP:1306797827"
     variation       649
                     /replace="*"
                     /db_xref="dbSNP:1212811086"
     variation       649
                     /replace="y"
                     /db_xref="dbSNP:1315624093"
     variation       651
                     /replace="l"
                     /db_xref="dbSNP:760783965"
     variation       651
                     /replace="p"
                     /db_xref="dbSNP:1485680662"
     variation       652
                     /replace="g"
                     /db_xref="dbSNP:148380586"
     variation       652
                     /replace="n"
                     /db_xref="dbSNP:764563938"
     variation       655
                     /replace="c"
                     /db_xref="dbSNP:779268164"
     variation       655
                     /replace="g"
                     /db_xref="dbSNP:1253809031"
     variation       656
                     /replace="i"
                     /db_xref="dbSNP:369858622"
     variation       656
                     /replace="t"
                     /db_xref="dbSNP:779652630"
     variation       659
                     /replace="h"
                     /db_xref="dbSNP:1417101627"
     variation       660
                     /replace="f"
                     /db_xref="dbSNP:746552060"
     variation       661
                     /replace="*"
                     /db_xref="dbSNP:371918189"
     variation       662
                     /replace="a"
                     /db_xref="dbSNP:773172485"
     variation       662
                     /replace="g"
                     /db_xref="dbSNP:370302573"
     variation       664
                     /replace="e"
                     /db_xref="dbSNP:550079240"
     variation       664
                     /replace="n"
                     /db_xref="dbSNP:1328569332"
     variation       667
                     /replace="t"
                     /db_xref="dbSNP:747265054"
     variation       668
                     /replace="d"
                     /db_xref="dbSNP:1407346738"
     variation       668
                     /replace="n"
                     /db_xref="dbSNP:768714872"
     variation       671
                     /replace="l"
                     /db_xref="dbSNP:1045099514"
     variation       671
                     /replace="s"
                     /db_xref="dbSNP:916045823"
     CDS             1..671
                     /gene="SH2B1"
                     /gene_synonym="PSM; SH2B"
                     /coded_by="NM_015503.2:2103..4118"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS32424.1"
                     /db_xref="GeneID:25970"
                     /db_xref="HGNC:HGNC:30417"
                     /db_xref="MIM:608937"
ORIGIN      
        1 mngapspedg aspsspplpp ppppswrefc esharaaald farrfrlyla shpqyagpga
       61 eaafsrrfae lflqhfeaev arasgslspp ilaplspgae isphdlsles crvggplavl
      121 gpsrssedla gplpssvsss sttsskpklk krfslrsvgr svrgsvrgil qwrgtvdpps
      181 sagpletssg ppvlggnsns nssggagtvg rglvsdgtsp gerwthrfer lrlsrgggal
      241 kdgagmvqre ellsfmgaee aapdpagvgr gggvagppsg gggqpqwqkc rlllrsegeg
      301 gggsrleffv ppkasrprls ipcssitdvr tttalempdr entfvvkveg pseyimetvd
      361 aqhvkawvsd iqeclspgpc patsprpmtl plapgtsflt rentdslels clnhseslps
      421 qdlllgpses ndrlsqgayg glsdrpsasi spssasiaas hfdsmellpp elppripiee
      481 gpptgtvhpl sapyppldtp etatgsflfq gepeggegdq plsgypwfhg mlsrlkaaql
      541 vltggtgshg vflvrqsetr rgeyvltfnf qgkakhlrls lneegqcrvq hlwfqsifdm
      601 lehfrvhpip lesggssdvv lvsyvpssqr qqgreqagsh agvcegdgch pdasctlmpf
      661 gasdcvtdhl p
//
DBGET integrated database retrieval system