GenomeNet

Database: RefSeq
Entry: NP_000039
LinkDB: NP_000039
Original site: NP_000039 
LOCUS       NP_000039                464 aa            linear   PRI 09-MAY-2018
DEFINITION  argininosuccinate lyase isoform 1 [Homo sapiens].
ACCESSION   NP_000039
VERSION     NP_000039.2
DBSOURCE    REFSEQ: accession NM_000048.3
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 464)
  AUTHORS   Lin Y, Yu K, Li L, Zheng Z, Lin W and Fu Q.
  TITLE     [Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese
            patients with citrullinemia]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 34 (5), 676-679 (2017)
   PUBMED   28981931
  REMARK    GeneRIF: The remaining five patients were diagnosed with neonatal
            intrahepatic cholestasis due to citrin deficiency, and have
            respectively carried mutations of the SLC25A13 gene including
            [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A],
            [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and
            [c.851-854delGTAT+c.1638-1660dup23]
REFERENCE   2  (residues 1 to 464)
  AUTHORS   Hung YH, Huang HL, Chen WC, Yen MC, Cho CY, Weng TY, Wang CY, Chen
            YL, Chen LT and Lai MD.
  TITLE     Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and
            modulates growth of liver tumor cells
  JOURNAL   Oncol. Rep. 37 (2), 969-978 (2017)
   PUBMED   28035420
  REMARK    GeneRIF: Overexpression of ASL may be a contributing factor in drug
            resistance for arginine deprivation therapy.
REFERENCE   3  (residues 1 to 464)
  AUTHORS   Huang HL, Chen WC, Hsu HP, Cho CY, Hung YH, Wang CY and Lai MD.
  TITLE     Silencing of argininosuccinate lyase inhibits colorectal cancer
            formation
  JOURNAL   Oncol. Rep. 37 (1), 163-170 (2017)
   PUBMED   27840980
  REMARK    GeneRIF: ASL-targeting shRNA-induced growth inhibition is
            associated with decreased cyclin A2 expression and Nitric oxide
            content in colon cancer.
REFERENCE   4  (residues 1 to 464)
  AUTHORS   Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T,
            Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg
            BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA,
            Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G,
            Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K,
            Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE,
            Iakoucheva LM, Xia Y and Vidal M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (residues 1 to 464)
  AUTHORS   Nagamani,S.C.S., Erez,A. and Lee,B.
  TITLE     Argininosuccinate Lyase Deficiency
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   21290785
REFERENCE   6  (residues 1 to 464)
  AUTHORS   Ah Mew,N., Simpson,K.L., Gropman,A.L., Lanpher,B.C., Chapman,K.A.
            and Summar,M.L.
  TITLE     Urea Cycle Disorders Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301396
REFERENCE   7  (residues 1 to 464)
  AUTHORS   Abramson RD, Barbosa P, Kalumuck K and O'Brien WE.
  TITLE     Characterization of the human argininosuccinate lyase gene and
            analysis of exon skipping
  JOURNAL   Genomics 10 (1), 126-132 (1991)
   PUBMED   2045097
REFERENCE   8  (residues 1 to 464)
  AUTHORS   Barbosa P, Cialkowski M and O'Brien WE.
  TITLE     Analysis of naturally occurring and site-directed mutations in the
            argininosuccinate lyase gene
  JOURNAL   J. Biol. Chem. 266 (8), 5286-5290 (1991)
   PUBMED   1705937
REFERENCE   9  (residues 1 to 464)
  AUTHORS   Walker DC, McCloskey DA, Simard LR and McInnes RR.
  TITLE     Molecular analysis of human argininosuccinate lyase: mutant
            characterization and alternative splicing of the coding region
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 87 (24), 9625-9629 (1990)
   PUBMED   2263616
REFERENCE   10 (residues 1 to 464)
  AUTHORS   Naylor,S.L., Klebe,R.J. and Shows,T.B.
  TITLE     Argininosuccinic aciduria: assignment of the argininosuccinate
            lyase gene to the pter to q22 region of human chromosome 7 by
            bioautography
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 75 (12), 6159-6162 (1978)
   PUBMED   282632
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX328836.2, BC008195.1,
            AC068533.7 and AI469765.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jun 9, 2003 this sequence version replaced NP_000039.1.
            
            Summary: This gene encodes a member of the lyase 1 family. The
            encoded protein forms a cytosolic homotetramer and primarily
            catalyzes the reversible hydrolytic cleavage of argininosuccinate
            into arginine and fumarate, an essential step in the liver in
            detoxifying ammonia via the urea cycle. Mutations in this gene
            result in the autosomal recessive disorder argininosuccinic
            aciduria, or argininosuccinic acid lyase deficiency. A
            nontranscribed pseudogene is also located on the long arm of
            chromosome 22. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same isoform (1).
            
            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 :: SRR1660805.68956.1,
                                           SRR1803612.193225.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..464
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     Protein         1..464
                     /product="argininosuccinate lyase isoform 1"
                     /EC_number="4.3.2.1"
                     /note="argininosuccinase; arginosuccinase"
                     /calculated_mol_wt=51527
     Region          1..463
                     /region_name="PLN02646"
                     /note="argininosuccinate lyase"
                     /db_xref="CDD:215348"
     variation       1
                     /replace="v"
                     /db_xref="dbSNP:1380302102"
     variation       2
                     /replace="d"
                     /db_xref="dbSNP:149918397"
     Site            2
                     /site_type="acetylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-acetylalanine. {ECO:0000250|UniProtKB:Q91YI0};
                     propagated from UniProtKB/Swiss-Prot (P04424.4)"
     variation       3
                     /replace="*"
                     /db_xref="dbSNP:779988786"
     variation       4
                     /replace="k"
                     /db_xref="dbSNP:1170922579"
     variation       7
                     /replace="m"
                     /db_xref="dbSNP:200194982"
     Site            7
                     /site_type="acetylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q91YI0};
                     propagated from UniProtKB/Swiss-Prot (P04424.4)"
     variation       8
                     /replace="i"
                     /db_xref="dbSNP:1446437917"
     variation       8
                     /replace="l"
                     /db_xref="dbSNP:1354687622"
     variation       8
                     /replace="p"
                     /db_xref="dbSNP:768690501"
     variation       10
                     /replace="s"
                     /db_xref="dbSNP:781154096"
     variation       12
                     /replace="q"
                     /db_xref="dbSNP:145138923"
     variation       12
                     /replace="r"
                     /db_xref="dbSNP:1400263045"
     variation       12
                     /replace="w"
                     /db_xref="dbSNP:564735357"
     variation       13
                     /replace="l"
                     /db_xref="dbSNP:571705199"
     variation       14
                     /replace="a"
                     /db_xref="dbSNP:773425505"
     variation       16
                     /replace="a"
                     /db_xref="dbSNP:930628311"
     variation       17
                     /replace="a"
                     /db_xref="dbSNP:1374363329"
     variation       17
                     /replace="m"
                     /db_xref="dbSNP:763073054"
     variation       18
                     /replace="d"
                     /db_xref="dbSNP:1309121791"
     variation       18
                     /replace="n"
                     /db_xref="dbSNP:572094840"
     variation       19
                     /replace="r"
                     /db_xref="dbSNP:1354898778"
     variation       19
                     /replace="s"
                     /db_xref="dbSNP:1430258474"
     variation       20
                     /replace="i"
                     /db_xref="dbSNP:910643561"
     variation       20
                     /replace="v"
                     /db_xref="dbSNP:771082435"
     variation       21
                     /replace="t"
                     /db_xref="dbSNP:774392615"
     variation       22
                     /replace="e"
                     /db_xref="dbSNP:763823679"
     variation       24
                     /replace="f"
                     /db_xref="dbSNP:760059034"
     variation       25
                     /replace="n"
                     /db_xref="dbSNP:370260834"
     variation       25
                     /replace="s"
                     /db_xref="dbSNP:1048954249"
     variation       26
                     /replace="a"
                     /db_xref="dbSNP:115069006"
     variation       26
                     /replace="t"
                     /db_xref="dbSNP:775839623"
     variation       26
                     /replace="v"
                     /db_xref="dbSNP:761046404"
     Region          27..459
                     /region_name="Argininosuccinate_lyase"
                     /note="Argininosuccinate lyase (argininosuccinase, ASAL);
                     cd01359"
                     /db_xref="CDD:176463"
     Site            order(27,31,87,89,112..114,117,159..160,236,279,281,289,
                     291,294,321,323,326,328..329)
                     /site_type="active"
                     /note="active sites [active]"
                     /db_xref="CDD:176463"
     variation       30
                     /replace="c"
                     /db_xref="dbSNP:757952889"
     variation       30
                     /replace="y"
                     /db_xref="dbSNP:751062108"
     variation       31
                     /replace="n"
                     /db_xref="dbSNP:754995756"
     variation       32
                     /replace="l"
                     /db_xref="dbSNP:149108910"
     variation       32
                     /replace="w"
                     /db_xref="dbSNP:901715532"
     variation       33
                     /replace="q"
                     /db_xref="dbSNP:142077823"
     variation       34
                     /replace="f"
                     /db_xref="dbSNP:777400089"
     variation       37
                     /replace="l"
                     /db_xref="dbSNP:146658202"
     variation       45
                     /replace="n"
                     /db_xref="dbSNP:771012029"
     variation       45
                     /replace="y"
                     /db_xref="dbSNP:200619443"
     variation       46
                     /replace="n"
                     /db_xref="dbSNP:1169719439"
     variation       47
                     /replace="r"
                     /db_xref="dbSNP:569936169"
     variation       49
                     /replace="m"
                     /db_xref="dbSNP:1299719647"
     variation       50
                     /replace="v"
                     /db_xref="dbSNP:1311955815"
     variation       51
                     /replace="n"
                     /db_xref="dbSNP:1001864342"
     variation       52
                     /replace="t"
                     /db_xref="dbSNP:1232124986"
     variation       52
                     /replace="v"
                     /db_xref="dbSNP:886062405"
     variation       53
                     /replace="g"
                     /db_xref="dbSNP:745883849"
     variation       54
                     /replace="l"
                     /db_xref="dbSNP:140221164"
     variation       55
                     /replace="l"
                     /db_xref="dbSNP:776039671"
     variation       58
                     /replace="a"
                     /db_xref="dbSNP:376104424"
     variation       59
                     /replace="k"
                     /db_xref="dbSNP:869312985"
     variation       60
                     /replace="v"
                     /db_xref="dbSNP:1254263038"
     variation       61
                     /replace="d"
                     /db_xref="dbSNP:73374672"
     variation       61
                     /replace="y"
                     /db_xref="dbSNP:764555326"
     variation       64
                     /replace="l"
                     /db_xref="dbSNP:1432346439"
     variation       65
                     /replace="d"
                     /db_xref="dbSNP:762846699"
     variation       65
                     /replace="h"
                     /db_xref="dbSNP:1431884873"
     variation       65
                     /replace="r"
                     /db_xref="dbSNP:999615023"
     variation       66
                     /replace="g"
                     /db_xref="dbSNP:1431649612"
     variation       69
                     /replace="*"
                     /db_xref="dbSNP:1464138269"
     variation       69
                     /replace="k"
                     /db_xref="dbSNP:886043007"
     Site            69
                     /site_type="acetylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000269|PubMed:20167786};
                     propagated from UniProtKB/Swiss-Prot (P04424.4)"
     variation       70
                     /replace="a"
                     /db_xref="dbSNP:1027739421"
     variation       70
                     /replace="m"
                     /db_xref="dbSNP:1216209455"
     variation       70
                     /replace="v"
                     /db_xref="dbSNP:1264105920"
     variation       71
                     /replace="g"
                     /db_xref="dbSNP:1476437887"
     variation       72
                     /replace="a"
                     /db_xref="dbSNP:1261457182"
     variation       73
                     /replace="e"
                     /db_xref="dbSNP:775520810"
     variation       73
                     /replace="v"
                     /db_xref="dbSNP:1180118084"
     variation       76
                     /replace="*"
                     /db_xref="dbSNP:373966403"
     variation       77
                     /replace="d"
                     /db_xref="dbSNP:762014141"
     variation       77
                     /replace="r"
                     /db_xref="dbSNP:137915973"
     variation       78
                     /replace="n"
                     /db_xref="dbSNP:933291133"
     variation       79
                     /replace="f"
                     /db_xref="dbSNP:1419430209"
     variation       81
                     /replace="l"
                     /db_xref="dbSNP:1297216151"
     variation       81
                     /replace="l"
                     /db_xref="dbSNP:774204716"
     variation       81
                     /replace="p"
                     /db_xref="dbSNP:141046612"
     variation       82
                     /replace="n"
                     /db_xref="dbSNP:1281983139"
     variation       84
                     /replace="n"
                     /db_xref="dbSNP:1246679761"
     variation       84
                     /replace="s"
                     /db_xref="dbSNP:759257974"
     variation       85
                     /replace="g"
                     /db_xref="dbSNP:767186104"
     variation       86
                     /replace="a"
                     /db_xref="dbSNP:869312986"
     variation       87
                     /replace="d"
                     /db_xref="dbSNP:1215546982"
     variation       87
                     /replace="g"
                     /db_xref="dbSNP:752100894"
     variation       92
                     /replace="n"
                     /db_xref="dbSNP:780895668"
     variation       93
                     /replace="e"
                     /db_xref="dbSNP:1228047537"
     variation       94
                     /replace="c"
                     /db_xref="dbSNP:374304304"
     variation       94
                     /replace="h"
                     /db_xref="dbSNP:777437569"
     variation       95
                     /replace="c"
                     /db_xref="dbSNP:28940585"
     variation       95
                     /replace="h"
                     /db_xref="dbSNP:150244667"
     variation       95
                     /replace="r"
                     /db_xref="dbSNP:757105613"
     variation       96
                     /replace="l"
                     /db_xref="dbSNP:1042681659"
     variation       96
                     /replace="p"
                     /db_xref="dbSNP:1483600747"
     variation       97
                     /replace="k"
                     /db_xref="dbSNP:778679108"
     variation       98
                     /replace="*"
                     /db_xref="dbSNP:770375565"
     variation       98
                     /replace="e"
                     /db_xref="dbSNP:778312880"
     variation       98
                     /replace="s"
                     /db_xref="dbSNP:869312987"
     variation       99
                     /replace="l"
                     /db_xref="dbSNP:1450256176"
     variation       100
                     /replace="n"
                     /db_xref="dbSNP:202142867"
     variation       101
                     /replace="d"
                     /db_xref="dbSNP:775061205"
     variation       101
                     /replace="g"
                     /db_xref="dbSNP:746665818"
     Site            order(102,105,108..109,158..165,171,175..176,182,185..186,
                     189,193,204..208,210,213,227..231,234..235,237,241,244,
                     248,251..252,254..255,258..259,264..265,268,276,282..285,
                     287..289,291,294..295,297..302,304..306,309,311..313,
                     321..324,327,330,341,344,370,375,379,384..385,388,391,437,
                     439..443,451)
                     /site_type="other"
                     /note="tetramer interface [polypeptide binding]"
                     /db_xref="CDD:176463"
     variation       102
                     /replace="a"
                     /db_xref="dbSNP:192537483"
     variation       102
                     /replace="t"
                     /db_xref="dbSNP:1201104546"
     variation       103
                     /replace="m"
                     /db_xref="dbSNP:768087423"
     variation       103
                     /replace="t"
                     /db_xref="dbSNP:142448820"
     variation       104
                     /replace="a"
                     /db_xref="dbSNP:1398461862"
     variation       106
                     /replace="r"
                     /db_xref="dbSNP:761765617"
     variation       107
                     /replace="l"
                     /db_xref="dbSNP:765123348"
     variation       108
                     /replace="n"
                     /db_xref="dbSNP:772998614"
     variation       108
                     /replace="p"
                     /db_xref="dbSNP:149426805"
     variation       109
                     /replace="m"
                     /db_xref="dbSNP:146123574"
     variation       109
                     /replace="t"
                     /db_xref="dbSNP:766185326"
     variation       110
                     /replace="g"
                     /db_xref="dbSNP:147464765"
     variation       111
                     /replace="q"
                     /db_xref="dbSNP:561367199"
     variation       111
                     /replace="w"
                     /db_xref="dbSNP:138310841"
     variation       113
                     /replace="q"
                     /db_xref="dbSNP:752783461"
     variation       113
                     /replace="w"
                     /db_xref="dbSNP:767543051"
     variation       115
                     /replace="e"
                     /db_xref="dbSNP:778365821"
     variation       115
                     /replace="n"
                     /db_xref="dbSNP:756692067"
     variation       116
                     /replace="*"
                     /db_xref="dbSNP:367543006"
     variation       117
                     /replace="v"
                     /db_xref="dbSNP:1178967079"
     variation       118
                     /replace="f"
                     /db_xref="dbSNP:1017379965"
     variation       118
                     /replace="v"
                     /db_xref="dbSNP:116121482"
     variation       123
                     /replace="l"
                     /db_xref="dbSNP:968632275"
     variation       124
                     /replace="r"
                     /db_xref="dbSNP:769361892"
     variation       125
                     /replace="i"
                     /db_xref="dbSNP:1309051052"
     variation       126
                     /replace="q"
                     /db_xref="dbSNP:777235530"
     variation       126
                     /replace="r"
                     /db_xref="dbSNP:201962738"
     variation       129
                     /replace="s"
                     /db_xref="dbSNP:749233780"
     variation       130
                     /replace="a"
                     /db_xref="dbSNP:770853301"
     variation       131
                     /replace="m"
                     /db_xref="dbSNP:143793815"
     variation       131
                     /replace="t"
                     /db_xref="dbSNP:147273133"
     variation       132
                     /replace="f"
                     /db_xref="dbSNP:771749936"
     variation       133
                     /replace="l"
                     /db_xref="dbSNP:748203708"
     variation       133
                     /replace="s"
                     /db_xref="dbSNP:141584041"
     variation       134
                     /replace="d"
                     /db_xref="dbSNP:201352504"
     variation       134
                     /replace="g"
                     /db_xref="dbSNP:1308519514"
     variation       135
                     /replace="l"
                     /db_xref="dbSNP:372653036"
     variation       137
                     /replace="c"
                     /db_xref="dbSNP:765713490"
     variation       138
                     /replace="*"
                     /db_xref="dbSNP:1289521371"
     variation       138
                     /replace="v"
                     /db_xref="dbSNP:1331847449"
     variation       140
                     /replace="t"
                     /db_xref="dbSNP:750770808"
     variation       140
                     /replace="v"
                     /db_xref="dbSNP:1376078142"
     variation       141
                     /replace="k"
                     /db_xref="dbSNP:948482833"
     variation       142
                     /replace="a"
                     /db_xref="dbSNP:375601630"
     variation       142
                     /replace="s"
                     /db_xref="dbSNP:930976127"
     variation       143
                     /replace="a"
                     /db_xref="dbSNP:1457607996"
     variation       143
                     /replace="i"
                     /db_xref="dbSNP:1393439839"
     variation       143
                     /replace="t"
                     /db_xref="dbSNP:780395212"
     variation       143
                     /replace="v"
                     /db_xref="dbSNP:1298064631"
     variation       145
                     /replace="g"
                     /db_xref="dbSNP:1348290958"
     variation       146
                     /replace="q"
                     /db_xref="dbSNP:796051931"
     variation       146
                     /replace="r"
                     /db_xref="dbSNP:1440465777"
     variation       146
                     /replace="w"
                     /db_xref="dbSNP:199938613"
     variation       147
                     /replace="s"
                     /db_xref="dbSNP:983867765"
     variation       148
                     /replace="k"
                     /db_xref="dbSNP:755742638"
     variation       148
                     /replace="v"
                     /db_xref="dbSNP:1222512283"
     variation       149
                     /replace="v"
                     /db_xref="dbSNP:777288665"
     variation       151
                     /replace="c"
                     /db_xref="dbSNP:745864407"
     variation       151
                     /replace="h"
                     /db_xref="dbSNP:758359291"
     variation       152
                     /replace="n"
                     /db_xref="dbSNP:780023054"
     variation       154
                     /replace="l"
                     /db_xref="dbSNP:1303394917"
     variation       154
                     /replace="p"
                     /db_xref="dbSNP:869312988"
     variation       155
                     /replace="c"
                     /db_xref="dbSNP:746730513"
     variation       155
                     /replace="p"
                     /db_xref="dbSNP:750613635"
     variation       156
                     /replace="l"
                     /db_xref="dbSNP:769017508"
     variation       156
                     /replace="p"
                     /db_xref="dbSNP:748316235"
     variation       157
                     /replace="e"
                     /db_xref="dbSNP:562503544"
     variation       158
                     /replace="y"
                     /db_xref="dbSNP:1361999742"
     variation       159
                     /replace="i"
                     /db_xref="dbSNP:769960006"
     variation       159
                     /replace="s"
                     /db_xref="dbSNP:987616397"
     variation       163
                     /replace="t"
                     /db_xref="dbSNP:773144621"
     variation       164
                     /replace="a"
                     /db_xref="dbSNP:763475038"
     variation       164
                     /replace="v"
                     /db_xref="dbSNP:1312766790"
     variation       166
                     /replace="p"
                     /db_xref="dbSNP:1293664442"
     variation       166
                     /replace="s"
                     /db_xref="dbSNP:1246351622"
     variation       168
                     /replace="c"
                     /db_xref="dbSNP:766832061"
     variation       168
                     /replace="h"
                     /db_xref="dbSNP:727503811"
     variation       169
                     /replace="c"
                     /db_xref="dbSNP:759952363"
     variation       170
                     /replace="g"
                     /db_xref="dbSNP:767862685"
     variation       170
                     /replace="n"
                     /db_xref="dbSNP:1180650883"
     variation       175
                     /replace="n"
                     /db_xref="dbSNP:1403440993"
     variation       176
                     /replace="h"
                     /db_xref="dbSNP:150557376"
     variation       177
                     /replace="a"
                     /db_xref="dbSNP:201974677"
     variation       177
                     /replace="t"
                     /db_xref="dbSNP:761555610"
     variation       178
                     /replace="m"
                     /db_xref="dbSNP:28941473"
     variation       180
                     /replace="r"
                     /db_xref="dbSNP:1057141162"
     variation       182
                     /replace="*"
                     /db_xref="dbSNP:398123126"
     variation       182
                     /replace="q"
                     /db_xref="dbSNP:751590073"
     variation       183
                     /replace="y"
                     /db_xref="dbSNP:1415138833"
     variation       186
                     /replace="q"
                     /db_xref="dbSNP:752397242"
     variation       186
                     /replace="r"
                     /db_xref="dbSNP:111407265"
     variation       187
                     /replace="g"
                     /db_xref="dbSNP:796051932"
     variation       187
                     /replace="l"
                     /db_xref="dbSNP:1206145562"
     variation       189
                     /replace="g"
                     /db_xref="dbSNP:756363516"
     variation       189
                     /replace="k"
                     /db_xref="dbSNP:1271432251"
     variation       191
                     /replace="g"
                     /db_xref="dbSNP:143508372"
     variation       191
                     /replace="l"
                     /db_xref="dbSNP:183157856"
     variation       191
                     /replace="r"
                     /db_xref="dbSNP:1470984058"
     variation       192
                     /replace="k"
                     /db_xref="dbSNP:115468878"
     variation       193
                     /replace="kr"
                     /db_xref="dbSNP:869312989"
     variation       193
                     /replace="q"
                     /db_xref="dbSNP:373697663"
     variation       193
                     /replace="r"
                     /db_xref="dbSNP:1428029508"
     variation       194
                     /replace="i"
                     /db_xref="dbSNP:746394101"
     variation       195
                     /replace="d"
                     /db_xref="dbSNP:1394168885"
     variation       195
                     /replace="n"
                     /db_xref="dbSNP:772416006"
     variation       195
                     /replace="s"
                     /db_xref="dbSNP:1409298819"
     variation       196
                     /replace="v"
                     /db_xref="dbSNP:114242623"
     variation       198
                     /replace="l"
                     /db_xref="dbSNP:1282829485"
     variation       198
                     /replace="p"
                     /db_xref="dbSNP:760887143"
     variation       198
                     /replace="s"
                     /db_xref="dbSNP:1403381181"
     variation       199
                     /replace="l"
                     /db_xref="dbSNP:1268487200"
     variation       199
                     /replace="l"
                     /db_xref="dbSNP:867736372"
     variation       202
                     /replace="g"
                     /db_xref="dbSNP:781714725"
     variation       202
                     /replace="w"
                     /db_xref="dbSNP:1403973745"
     variation       203
                     /replace="a"
                     /db_xref="dbSNP:139105263"
     variation       203
                     /replace="t"
                     /db_xref="dbSNP:748459510"
     variation       203
                     /replace="v"
                     /db_xref="dbSNP:770720936"
     variation       204
                     /replace="t"
                     /db_xref="dbSNP:745502369"
     variation       205
                     /replace="a"
                     /db_xref="dbSNP:775013928"
     variation       205
                     /replace="t"
                     /db_xref="dbSNP:771531271"
     variation       205
                     /replace="v"
                     /db_xref="dbSNP:796051925"
     variation       206
                     /replace="v"
                     /db_xref="dbSNP:760559303"
     variation       207
                     /replace="s"
                     /db_xref="dbSNP:763948849"
     variation       208
                     /replace="l"
                     /db_xref="dbSNP:1263616535"
     variation       208
                     /replace="t"
                     /db_xref="dbSNP:1202980866"
     variation       209
                     /replace="l"
                     /db_xref="dbSNP:1484116994"
     variation       209
                     /replace="l"
                     /db_xref="dbSNP:776422049"
     variation       209
                     /replace="r"
                     /db_xref="dbSNP:1409884405"
     variation       211
                     /replace="m"
                     /db_xref="dbSNP:1349845938"
     variation       211
                     /replace="v"
                     /db_xref="dbSNP:1326733063"
     variation       212
                     /replace="d"
                     /db_xref="dbSNP:1249547167"
     variation       213
                     /replace="*"
                     /db_xref="dbSNP:761651320"
     variation       213
                     /replace="q"
                     /db_xref="dbSNP:1449589636"
     variation       214
                     /replace="e"
                     /db_xref="dbSNP:1427327330"
     variation       214
                     /replace="q"
                     /db_xref="dbSNP:765009028"
     variation       215
                     /replace="l"
                     /db_xref="dbSNP:1480124074"
     variation       217
                     /replace="*"
                     /db_xref="dbSNP:369879957"
     variation       217
                     /replace="q"
                     /db_xref="dbSNP:1015799966"
     variation       217
                     /replace="r"
                     /db_xref="dbSNP:1460904725"
     variation       218
                     /replace="a"
                     /db_xref="dbSNP:766396580"
     variation       218
                     /replace="g"
                     /db_xref="dbSNP:1397619877"
     variation       218
                     /replace="s"
                     /db_xref="dbSNP:758627014"
     variation       219
                     /replace="*"
                     /db_xref="dbSNP:944576125"
     variation       220
                     /replace="f"
                     /db_xref="dbSNP:772891482"
     variation       222
                     /replace="f"
                     /db_xref="dbSNP:770619576"
     variation       222
                     /replace="s"
                     /db_xref="dbSNP:762752759"
     variation       225
                     /replace="t"
                     /db_xref="dbSNP:774703196"
     variation       227
                     /replace="v"
                     /db_xref="dbSNP:1427971700"
     variation       228
                     /replace="n"
                     /db_xref="dbSNP:759802742"
     variation       229
                     /replace="s"
                     /db_xref="dbSNP:1365912036"
     variation       230
                     /replace="v"
                     /db_xref="dbSNP:143957662"
     variation       231
                     /replace="d"
                     /db_xref="dbSNP:1312699116"
     variation       233
                     /replace="s"
                     /db_xref="dbSNP:1229119110"
     variation       233
                     /replace="s"
                     /db_xref="dbSNP:764495594"
     variation       236
                     /replace="q"
                     /db_xref="dbSNP:764602422"
     variation       236
                     /replace="r"
                     /db_xref="dbSNP:1206710088"
     variation       236
                     /replace="w"
                     /db_xref="dbSNP:761268464"
     variation       237
                     /replace="n"
                     /db_xref="dbSNP:552951774"
     variation       238
                     /replace="y"
                     /db_xref="dbSNP:754283030"
     variation       239
                     /replace="v"
                     /db_xref="dbSNP:757704350"
     variation       240
                     /replace="a"
                     /db_xref="dbSNP:764072757"
     variation       240
                     /replace="t"
                     /db_xref="dbSNP:1466679250"
     variation       240
                     /replace="v"
                     /db_xref="dbSNP:1468315826"
     variation       241
                     /replace="a"
                     /db_xref="dbSNP:924321091"
     variation       241
                     /replace="e"
                     /db_xref="dbSNP:1409068410"
     variation       242
                     /replace="f"
                     /db_xref="dbSNP:1416941812"
     variation       246
                     /replace="d"
                     /db_xref="dbSNP:3107306"
     variation       246
                     /replace="p"
                     /db_xref="dbSNP:777232999"
     variation       247
                     /replace="l"
                     /db_xref="dbSNP:1405344068"
     variation       247
                     /replace="s"
                     /db_xref="dbSNP:371927473"
     variation       249
                     /replace="c"
                     /db_xref="dbSNP:765660307"
     variation       250
                     /replace="k"
                     /db_xref="dbSNP:754634171"
     variation       250
                     /replace="v"
                     /db_xref="dbSNP:374908945"
     variation       253
                     /replace="r"
                     /db_xref="dbSNP:183018428"
     variation       253
                     /replace="v"
                     /db_xref="dbSNP:767103799"
     variation       254
                     /replace="r"
                     /db_xref="dbSNP:869312991"
     variation       255
                     /replace="k"
                     /db_xref="dbSNP:752333334"
     variation       256
                     /replace="i"
                     /db_xref="dbSNP:1185655998"
     variation       256
                     /replace="t"
                     /db_xref="dbSNP:149057077"
     variation       257
                     /replace="a"
                     /db_xref="dbSNP:375586912"
     variation       258
                     /replace="k"
                     /db_xref="dbSNP:909358635"
     variation       260
                     /replace="l"
                     /db_xref="dbSNP:143359899"
     variation       262
                     /replace="f"
                     /db_xref="dbSNP:943625457"
     variation       263
                     /replace="y"
                     /db_xref="dbSNP:1388633554"
     variation       264
                     /replace="c"
                     /db_xref="dbSNP:1271361346"
     variation       264
                     /replace="y"
                     /db_xref="dbSNP:1039301353"
     variation       265
                     /replace="t"
                     /db_xref="dbSNP:757101256"
     variation       271
                     /replace="l"
                     /db_xref="dbSNP:778854382"
     variation       272
                     /replace="q"
                     /db_xref="dbSNP:1251998188"
     variation       273
                     /replace="f"
                     /db_xref="dbSNP:1483827918"
     variation       276
                     /replace="a"
                     /db_xref="dbSNP:745601034"
     variation       276
                     /replace="d"
                     /db_xref="dbSNP:796145445"
     variation       276
                     /replace="t"
                     /db_xref="dbSNP:1388784822"
     variation       279
                     /replace="m"
                     /db_xref="dbSNP:781340332"
     variation       279
                     /replace="t"
                     /db_xref="dbSNP:543255240"
     variation       280
                     /replace="e"
                     /db_xref="dbSNP:1085307952"
     variation       282
                     /replace="g"
                     /db_xref="dbSNP:1243348133"
     variation       282
                     /replace="s"
                     /db_xref="dbSNP:398123128"
     variation       283
                     /replace="l"
                     /db_xref="dbSNP:771334759"
     variation       285
                     /replace="p"
                     /db_xref="dbSNP:760378137"
     variation       285
                     /replace="s"
                     /db_xref="dbSNP:774532004"
     variation       286
                     /replace="r"
                     /db_xref="dbSNP:28941472"
     variation       287
                     /replace="k"
                     /db_xref="dbSNP:370973627"
     Site            288
                     /site_type="acetylation"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000269|PubMed:20167786};
                     propagated from UniProtKB/Swiss-Prot (P04424.4)"
     variation       289
                     /replace="t"
                     /db_xref="dbSNP:761296434"
     variation       290
                     /replace="p"
                     /db_xref="dbSNP:764804216"
     variation       292
                     /replace="g"
                     /db_xref="dbSNP:1187108483"
     variation       292
                     /replace="r"
                     /db_xref="dbSNP:762064987"
     variation       293
                     /replace="l"
                     /db_xref="dbSNP:1288232889"
     variation       295
                     /replace="p"
                     /db_xref="dbSNP:1369337876"
     variation       296
                     /replace="m"
                     /db_xref="dbSNP:1473890093"
     variation       297
                     /replace="q"
                     /db_xref="dbSNP:750431938"
     variation       297
                     /replace="r"
                     /db_xref="dbSNP:1377192458"
     variation       297
                     /replace="w"
                     /db_xref="dbSNP:869312992"
     variation       301
                     /replace="a"
                     /db_xref="dbSNP:1387956958"
     variation       301
                     /replace="r"
                     /db_xref="dbSNP:1161412459"
     variation       302
                     /replace="h"
                     /db_xref="dbSNP:758359461"
     variation       303
                     /replace="m"
                     /db_xref="dbSNP:375562374"
     variation       304
                     /replace="f"
                     /db_xref="dbSNP:751249678"
     variation       304
                     /replace="i"
                     /db_xref="dbSNP:1348172286"
     variation       304
                     /replace="w"
                     /db_xref="dbSNP:746531359"
     variation       306
                     /replace="a"
                     /db_xref="dbSNP:1457514256"
     variation       306
                     /replace="l"
                     /db_xref="dbSNP:755245694"
     variation       306
                     /replace="w"
                     /db_xref="dbSNP:868834862"
     variation       308
                     /replace="a"
                     /db_xref="dbSNP:747831550"
     variation       308
                     /replace="v"
                     /db_xref="dbSNP:775871020"
     variation       309
                     /replace="g"
                     /db_xref="dbSNP:151294789"
     variation       309
                     /replace="r"
                     /db_xref="dbSNP:769506424"
     variation       310
                     /replace="f"
                     /db_xref="dbSNP:1168345442"
     variation       311
                     /replace="l"
                     /db_xref="dbSNP:550097103"
     variation       312
                     /replace="v"
                     /db_xref="dbSNP:765801478"
     variation       313
                     /replace="n"
                     /db_xref="dbSNP:1410031530"
     variation       314
                     /replace="l"
                     /db_xref="dbSNP:1309361433"
     variation       317
                     /replace="f"
                     /db_xref="dbSNP:1364826703"
     variation       317
                     /replace="l"
                     /db_xref="dbSNP:765914227"
     variation       318
                     /replace="p"
                     /db_xref="dbSNP:1301828696"
     variation       319
                     /replace="n"
                     /db_xref="dbSNP:774195710"
     variation       322
                     /replace="d"
                     /db_xref="dbSNP:759495870"
     variation       322
                     /replace="s"
                     /db_xref="dbSNP:767240274"
     variation       324
                     /replace="g"
                     /db_xref="dbSNP:752451547"
     variation       325
                     /replace="*"
                     /db_xref="dbSNP:756339957"
     variation       325
                     /replace="r"
                     /db_xref="dbSNP:763407938"
     variation       326
                     /replace="h"
                     /db_xref="dbSNP:764356037"
     variation       326
                     /replace="k"
                     /db_xref="dbSNP:398123129"
     variation       327
                     /replace="e"
                     /db_xref="dbSNP:770579327"
     variation       327
                     /replace="k"
                     /db_xref="dbSNP:796051926"
     variation       329
                     /replace="e"
                     /db_xref="dbSNP:1207747147"
     variation       329
                     /replace="t"
                     /db_xref="dbSNP:1269247701"
     variation       331
                     /replace="v"
                     /db_xref="dbSNP:778293307"
     variation       332
                     /replace="a"
                     /db_xref="dbSNP:1466295993"
     variation       338
                     /replace="i"
                     /db_xref="dbSNP:370475550"
     variation       338
                     /replace="t"
                     /db_xref="dbSNP:1396048492"
     variation       340
                     /replace="r"
                     /db_xref="dbSNP:771476376"
     variation       341
                     /replace="a"
                     /db_xref="dbSNP:530889593"
     variation       341
                     /replace="v"
                     /db_xref="dbSNP:1314275786"
     variation       342
                     /replace="m"
                     /db_xref="dbSNP:375200087"
     variation       342
                     /replace="v"
                     /db_xref="dbSNP:768461888"
     variation       343
                     /replace="i"
                     /db_xref="dbSNP:776370325"
     variation       343
                     /replace="l"
                     /db_xref="dbSNP:140532520"
     variation       344
                     /replace="q"
                     /db_xref="dbSNP:765440578"
     variation       345
                     /replace="v"
                     /db_xref="dbSNP:182203503"
     variation       346
                     /replace="t"
                     /db_xref="dbSNP:974644914"
     variation       346
                     /replace="v"
                     /db_xref="dbSNP:925782604"
     variation       347
                     /replace="i"
                     /db_xref="dbSNP:1331990086"
     variation       348
                     /replace="g"
                     /db_xref="dbSNP:147116519"
     variation       348
                     /replace="s"
                     /db_xref="dbSNP:763161583"
     variation       349
                     /replace="c"
                     /db_xref="dbSNP:1355943561"
     variation       349
                     /replace="c"
                     /db_xref="dbSNP:796051933"
     variation       349
                     /replace="i"
                     /db_xref="dbSNP:372774556"
     variation       349
                     /replace="v"
                     /db_xref="dbSNP:187877947"
     variation       350
                     /replace="i"
                     /db_xref="dbSNP:756876333"
     variation       350
                     /replace="t"
                     /db_xref="dbSNP:753041896"
     variation       350
                     /replace="v"
                     /db_xref="dbSNP:1030530823"
     variation       352
                     /replace="m"
                     /db_xref="dbSNP:778692269"
     variation       352
                     /replace="t"
                     /db_xref="dbSNP:745476328"
     variation       353
                     /replace="l"
                     /db_xref="dbSNP:771658402"
     variation       354
                     /replace="*"
                     /db_xref="dbSNP:367543005"
     variation       356
                     /replace="d"
                     /db_xref="dbSNP:1388056757"
     variation       357
                     /replace="q"
                     /db_xref="dbSNP:1429384305"
     variation       359
                     /replace="i"
                     /db_xref="dbSNP:1169417515"
     variation       359
                     /replace="n"
                     /db_xref="dbSNP:372785881"
     variation       360
                     /replace="t"
                     /db_xref="dbSNP:875989948"
     variation       365
                     /replace="c"
                     /db_xref="dbSNP:776748819"
     variation       365
                     /replace="s"
                     /db_xref="dbSNP:749559501"
     variation       366
                     /replace="p"
                     /db_xref="dbSNP:138511394"
     variation       367
                     /replace="d"
                     /db_xref="dbSNP:199891488"
     variation       367
                     /replace="g"
                     /db_xref="dbSNP:377357084"
     variation       367
                     /replace="n"
                     /db_xref="dbSNP:774589623"
     variation       368
                     /replace="t"
                     /db_xref="dbSNP:112559904"
     variation       371
                     /replace="t"
                     /db_xref="dbSNP:1466517161"
     variation       373
                     /replace="l"
                     /db_xref="dbSNP:762303910"
     variation       375
                     /replace="c"
                     /db_xref="dbSNP:886062406"
     variation       375
                     /replace="l"
                     /db_xref="dbSNP:869312993"
     variation       375
                     /replace="y"
                     /db_xref="dbSNP:776110149"
     variation       376
                     /replace="*"
                     /db_xref="dbSNP:764546937"
     variation       376
                     /replace="c"
                     /db_xref="dbSNP:761034915"
     variation       377
                     /replace="p"
                     /db_xref="dbSNP:377761362"
     variation       377
                     /replace="v"
                     /db_xref="dbSNP:1288503017"
     variation       378
                     /replace="a"
                     /db_xref="dbSNP:758058521"
     variation       378
                     /replace="v"
                     /db_xref="dbSNP:143883756"
     variation       379
                     /replace="c"
                     /db_xref="dbSNP:28940287"
     variation       379
                     /replace="h"
                     /db_xref="dbSNP:200853731"
     variation       381
                     /replace="w"
                     /db_xref="dbSNP:1301059768"
     variation       382
                     /replace="l"
                     /db_xref="dbSNP:757165371"
     variation       385
                     /replace="c"
                     /db_xref="dbSNP:28940286"
     variation       385
                     /replace="h"
                     /db_xref="dbSNP:746120802"
     variation       385
                     /replace="r"
                     /db_xref="dbSNP:374176189"
     variation       386
                     /replace="h"
                     /db_xref="dbSNP:1161854708"
     variation       388
                     /replace="h"
                     /db_xref="dbSNP:75300185"
     variation       389
                     /replace="g"
                     /db_xref="dbSNP:1050120893"
     variation       389
                     /replace="k"
                     /db_xref="dbSNP:1465800300"
     variation       390
                     /replace="a"
                     /db_xref="dbSNP:747116101"
     variation       390
                     /replace="v"
                     /db_xref="dbSNP:201047656"
     variation       391
                     /replace="s"
                     /db_xref="dbSNP:1436177232"
     variation       392
                     /replace="a"
                     /db_xref="dbSNP:1462182076"
     variation       392
                     /replace="r"
                     /db_xref="dbSNP:768775570"
     variation       393
                     /replace="e"
                     /db_xref="dbSNP:1020292358"
     variation       395
                     /replace="m"
                     /db_xref="dbSNP:1222076873"
     variation       395
                     /replace="v"
                     /db_xref="dbSNP:371336813"
     variation       396
                     /replace="l"
                     /db_xref="dbSNP:1410369095"
     variation       397
                     /replace="i"
                     /db_xref="dbSNP:1271130081"
     variation       398
                     /replace="a"
                     /db_xref="dbSNP:149370610"
     variation       398
                     /replace="d"
                     /db_xref="dbSNP:770167670"
     variation       399
                     /replace="k"
                     /db_xref="dbSNP:767023696"
     variation       400
                     /replace="n"
                     /db_xref="dbSNP:1256346548"
     variation       400
                     /replace="t"
                     /db_xref="dbSNP:370291313"
     variation       402
                     /replace="w"
                     /db_xref="dbSNP:727503812"
     variation       403
                     /replace="f"
                     /db_xref="dbSNP:763635336"
     variation       403
                     /replace="g"
                     /db_xref="dbSNP:753847119"
     variation       403
                     /replace="v"
                     /db_xref="dbSNP:1179470187"
     variation       404
                     /replace="t"
                     /db_xref="dbSNP:757216794"
     variation       405
                     /replace="l"
                     /db_xref="dbSNP:778852443"
     variation       406
                     /replace="h"
                     /db_xref="dbSNP:1200087400"
     variation       410
                     /replace="l"
                     /db_xref="dbSNP:1397223617"
     variation       411
                     /replace="p"
                     /db_xref="dbSNP:750184740"
     variation       411
                     /replace="q"
                     /db_xref="dbSNP:202182043"
     variation       412
                     /replace="k"
                     /db_xref="dbSNP:1369402258"
     variation       413
                     /replace="l"
                     /db_xref="dbSNP:780205992"
     variation       414
                     /replace="q"
                     /db_xref="dbSNP:144716217"
     variation       414
                     /replace="r"
                     /db_xref="dbSNP:1299370616"
     variation       416
                     /replace="t"
                     /db_xref="dbSNP:796051927"
     variation       417
                     /replace="i"
                     /db_xref="dbSNP:1303920407"
     variation       417
                     /replace="r"
                     /db_xref="dbSNP:1386112870"
     variation       417
                     /replace="r"
                     /db_xref="dbSNP:1409084448"
     variation       418
                     /replace="t"
                     /db_xref="dbSNP:1394618600"
     variation       419
                     /replace="l"
                     /db_xref="dbSNP:1208547893"
     variation       419
                     /replace="r"
                     /db_xref="dbSNP:1403917458"
     variation       419
                     /replace="v"
                     /db_xref="dbSNP:1165773472"
     variation       419
                     /replace="v"
                     /db_xref="dbSNP:757109353"
     variation       420
                     /replace="f"
                     /db_xref="dbSNP:1208131360"
     variation       421
                     /replace="l"
                     /db_xref="dbSNP:148669165"
     variation       421
                     /replace="s"
                     /db_xref="dbSNP:542163407"
     variation       422
                     /replace="c"
                     /db_xref="dbSNP:756178138"
     variation       422
                     /replace="d"
                     /db_xref="dbSNP:940600301"
     variation       422
                     /replace="g"
                     /db_xref="dbSNP:538342522"
     variation       423
                     /replace="d"
                     /db_xref="dbSNP:1420011973"
     variation       423
                     /replace="n"
                     /db_xref="dbSNP:778321544"
     variation       424
                     /replace="m"
                     /db_xref="dbSNP:368264870"
     variation       424
                     /replace="v"
                     /db_xref="dbSNP:1158204310"
     variation       425
                     /replace="i"
                     /db_xref="dbSNP:771218861"
     variation       426
                     /replace="c"
                     /db_xref="dbSNP:140770112"
     variation       427
                     /replace="l"
                     /db_xref="dbSNP:746642043"
     variation       428
                     /replace="r"
                     /db_xref="dbSNP:768362148"
     variation       429
                     /replace="d"
                     /db_xref="dbSNP:1295179644"
     variation       429
                     /replace="y"
                     /db_xref="dbSNP:1415535789"
     variation       430
                     /replace="y"
                     /db_xref="dbSNP:780846396"
     variation       431
                     /replace="g"
                     /db_xref="dbSNP:977248418"
     variation       431
                     /replace="r"
                     /db_xref="dbSNP:201733091"
     variation       432
                     /replace="q"
                     /db_xref="dbSNP:780801580"
     variation       432
                     /replace="r"
                     /db_xref="dbSNP:1359678839"
     variation       432
                     /replace="y"
                     /db_xref="dbSNP:888832961"
     variation       433
                     /replace="r"
                     /db_xref="dbSNP:796051928"
     variation       433
                     /replace="s"
                     /db_xref="dbSNP:764807922"
     variation       434
                     /replace="l"
                     /db_xref="dbSNP:773071023"
     variation       434
                     /replace="v"
                     /db_xref="dbSNP:141705502"
     variation       435
                     /replace="g"
                     /db_xref="dbSNP:1409593082"
     variation       436
                     /replace="e"
                     /db_xref="dbSNP:766120842"
     variation       436
                     /replace="q"
                     /db_xref="dbSNP:751302378"
     variation       437
                     /replace="y"
                     /db_xref="dbSNP:932494060"
     variation       438
                     /replace="d"
                     /db_xref="dbSNP:1258973382"
     variation       439
                     /replace="a"
                     /db_xref="dbSNP:755170923"
     variation       440
                     /replace="l"
                     /db_xref="dbSNP:146274715"
     variation       440
                     /replace="p"
                     /db_xref="dbSNP:752915686"
     variation       441
                     /replace="g"
                     /db_xref="dbSNP:749685338"
     variation       442
                     /replace="a"
                     /db_xref="dbSNP:369336680"
     variation       442
                     /replace="g"
                     /db_xref="dbSNP:771218081"
     variation       442
                     /replace="s"
                     /db_xref="dbSNP:1173674993"
     variation       443
                     /replace="s"
                     /db_xref="dbSNP:777811469"
     variation       444
                     /replace="a"
                     /db_xref="dbSNP:1020745415"
     variation       444
                     /replace="v"
                     /db_xref="dbSNP:749788626"
     variation       445
                     /replace="c"
                     /db_xref="dbSNP:757714252"
     variation       445
                     /replace="h"
                     /db_xref="dbSNP:372272449"
     variation       447
                     /replace="n"
                     /db_xref="dbSNP:373519615"
     variation       447
                     /replace="s"
                     /db_xref="dbSNP:558327619"
     variation       448
                     /replace="i"
                     /db_xref="dbSNP:139410488"
     variation       448
                     /replace="v"
                     /db_xref="dbSNP:144011206"
     variation       449
                     /replace="d"
                     /db_xref="dbSNP:769450817"
     variation       449
                     /replace="h"
                     /db_xref="dbSNP:781031440"
     variation       450
                     /replace="g"
                     /db_xref="dbSNP:796051929"
     variation       452
                     /replace="f"
                     /db_xref="dbSNP:1211112295"
     variation       453
                     /replace="c"
                     /db_xref="dbSNP:144591360"
     variation       453
                     /replace="h"
                     /db_xref="dbSNP:762805462"
     variation       454
                     /replace="*"
                     /db_xref="dbSNP:869312994"
     variation       454
                     /replace="r"
                     /db_xref="dbSNP:770844836"
     variation       455
                     /replace="l"
                     /db_xref="dbSNP:774142780"
     variation       455
                     /replace="v"
                     /db_xref="dbSNP:1490419876"
     variation       456
                     /replace="q"
                     /db_xref="dbSNP:767271619"
     variation       456
                     /replace="r"
                     /db_xref="dbSNP:759396688"
     variation       457
                     /replace="a"
                     /db_xref="dbSNP:375514826"
     variation       457
                     /replace="p"
                     /db_xref="dbSNP:796051930"
     variation       457
                     /replace="v"
                     /db_xref="dbSNP:752968765"
     variation       458
                     /replace="l"
                     /db_xref="dbSNP:1175698932"
     variation       458
                     /replace="p"
                     /db_xref="dbSNP:1368796126"
     variation       461
                     /replace="a"
                     /db_xref="dbSNP:139531479"
     variation       461
                     /replace="p"
                     /db_xref="dbSNP:764083025"
     variation       461
                     /replace="v"
                     /db_xref="dbSNP:753893235"
     variation       462
                     /replace="*"
                     /db_xref="dbSNP:1434906197"
     variation       462
                     /replace="q"
                     /db_xref="dbSNP:1274669918"
     variation       463
                     /replace="q"
                     /db_xref="dbSNP:149698725"
     variation       463
                     /replace="r"
                     /db_xref="dbSNP:200363489"
     variation       464
                     /replace="s"
                     /db_xref="dbSNP:758880237"
     CDS             1..464
                     /gene="ASL"
                     /gene_synonym="ASAL"
                     /coded_by="NM_000048.3:112..1506"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS5531.1"
                     /db_xref="GeneID:435"
                     /db_xref="HGNC:HGNC:746"
                     /db_xref="MIM:608310"
ORIGIN      
        1 masesgklwg grfvgavdpi mekfnasiay drhlwevdvq gskaysrgle kaglltkaem
       61 dqilhgldkv aeewaqgtfk lnsndediht anerrlkeli gatagklhtg rsrndqvvtd
      121 lrlwmrqtcs tlsgllweli rtmvdraeae rdvlfpgyth lqraqpirws hwilshaval
      181 trdserllev rkrinvlplg sgaiagnplg vdrellrael nfgaitlnsm datserdfva
      241 eflfwaslcm thlsrmaedl ilyctkefsf vqlsdaystg sslmpqkknp dslelirska
      301 grvfgrcagl lmtlkglpst ynkdlqedke avfevsdtms avlqvatgvi stlqihqenm
      361 gqalspdmla tdlayylvrk gmpfrqahea sgkavfmaet kgvalnqlsl qelqtisplf
      421 sgdvicvwdy ghsveqygal ggtarssvdw qirqvrallq aqqa
//
DBGET integrated database retrieval system