GenomeNet

Database: RefSeq
Entry: NP_000445
LinkDB: NP_000445
Original site: NP_000445 
LOCUS       NP_000445                154 aa            linear   PRI 23-DEC-2018
DEFINITION  superoxide dismutase [Cu-Zn] [Homo sapiens].
ACCESSION   NP_000445
VERSION     NP_000445.1
DBSOURCE    REFSEQ: accession NM_000454.4
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 154)
  AUTHORS   Dantas LS, Chaves-Filho AB, Coelho FR, Genaro-Mattos TC, Tallman
            KA, Porter NA, Augusto O and Miyamoto S.
  TITLE     Cholesterol secosterol aldehyde adduction and aggregation of
            Cu,Zn-superoxide dismutase: Potential implications in ALS
  JOURNAL   Redox Biol 19, 105-115 (2018)
   PUBMED   30142602
  REMARK    GeneRIF: These results show that secosterol aldehydes are increased
            in plasma of symptomatic amyotrophic lateral sclerosis rats,
            overexpressing multiple copies (~8 copies) of G93A mutant human
            SOD1, and represent a class of aldehydes that can potentially
            modify SOD1 enhancing its propensity to aggregate.
REFERENCE   2  (residues 1 to 154)
  AUTHORS   Medinas DB, Rozas P, Martinez Traub F, Woehlbier U, Brown RH, Bosco
            DA and Hetz C.
  TITLE     Endoplasmic reticulum stress leads to accumulation of wild-type
            SOD1 aggregates associated with sporadic amyotrophic lateral
            sclerosis
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 115 (32), 8209-8214 (2018)
   PUBMED   30038021
  REMARK    GeneRIF: Study suggests that endoplasmic reticulum stress increases
            the susceptibility of SOD1WT to aggregate during aging, operating
            as a possible risk factor for developing amyotrophic lateral
            sclerosis.
REFERENCE   3  (residues 1 to 154)
  AUTHORS   Fu G, Yan Y, Chen L, Zhang M and Ming L.
  TITLE     Shortened Activated Partial Thromboplastin Time and Increased
            Superoxide Dismutase Levels Are Associated with Type 2 Diabetes
            Mellitus
  JOURNAL   Ann. Clin. Lab. Sci. 48 (4), 469-477 (2018)
   PUBMED   30143488
  REMARK    GeneRIF: Shorter activated partial thromboplastin time and
            increased SOD levels might be useful hemostatic markers in patients
            with type 2 diabetes mellitus.
REFERENCE   4  (residues 1 to 154)
  AUTHORS   Snahnicanova Z, Mendelova A, Grendar M, Holubekova V, Kostkova M,
            Pozorciakova K, Jancinova M, Kasubova I, Vojtkova J, Durdik P,
            Lasabova Z, Ciljakova M and Banovcin P.
  TITLE     Association of Polymorphisms in CYBA, SOD1, and CAT Genes with Type
            1 Diabetes and Diabetic Peripheral Neuropathy in Children and
            Adolescents
  JOURNAL   Genet Test Mol Biomarkers 22 (7), 413-419 (2018)
   PUBMED   29924645
  REMARK    GeneRIF: Weak significance was observed for a protective effect of
            the TT genotype of rs1041740 in the SOD1 gene relative to Type 1
            Diabetes development (OR 0.318, 95% CI 0.092-0.959, p = 0.056).
REFERENCE   5  (residues 1 to 154)
  AUTHORS   Karkkainen J, Saimanen I, Selander T, Aspinen S, Harju J, Juvonen P
            and Eskelinen M.
  TITLE     Gallstone Patients with Enhanced Oxidative Stress Biomarker
            Superoxide Dismutase (SOD1) Plasma Levels Have Significantly Lower
            Number of Postoperative Analgesic Oxycodone Doses: A Prospective
            Study with Special Reference to Cancer Patients
  JOURNAL   Anticancer Res. 38 (6), 3573-3578 (2018)
   PUBMED   29848712
  REMARK    GeneRIF: Data show that cholecystectomy patients with enhanced
            levels of superoxide dismutase (SOD1) appeared to have
            significantly lower number of analgesic oxycodone doses during the
            first 24 h postoperatively (NAD24).
REFERENCE   6  (residues 1 to 154)
  AUTHORS   Kinsley,L. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301623
REFERENCE   7  (residues 1 to 154)
  AUTHORS   Crapo JD, Oury T, Rabouille C, Slot JW and Chang LY.
  TITLE     Copper,zinc superoxide dismutase is primarily a cytosolic protein
            in human cells
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 89 (21), 10405-10409 (1992)
   PUBMED   1332049
REFERENCE   8  (residues 1 to 154)
  AUTHORS   Parge HE, Hallewell RA and Tainer JA.
  TITLE     Atomic structures of wild-type and thermostable mutant recombinant
            human Cu,Zn superoxide dismutase
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 89 (13), 6109-6113 (1992)
   PUBMED   1463506
  REMARK    Erratum:[Proc Natl Acad Sci U S A 1992 Nov 15;89(22):11106]
REFERENCE   9  (residues 1 to 154)
  AUTHORS   Kajihara J, Enomoto M, Nishijima K, Yabuuchi M and Katoh K.
  TITLE     Comparison of properties between human recombinant and placental
            copper-zinc SOD
  JOURNAL   J. Biochem. 104 (5), 851-854 (1988)
   PUBMED   2853161
REFERENCE   10 (residues 1 to 154)
  AUTHORS   Philip,T., Fraisse,J., Sinet,P.M., Lauras,B., Robert,J.M. and
            Freycon,F.
  TITLE     Confirmation of the assignment of the human SODS gene to chromosome
            21q22
  JOURNAL   Cytogenet. Cell Genet. 22 (1-6), 521-523 (1978)
   PUBMED   752535
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from W17182.1, AV756797.1,
            BC001034.1, X02317.1 and CA448539.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene binds copper and zinc
            ions and is one of two isozymes responsible for destroying free
            superoxide radicals in the body. The encoded isozyme is a soluble
            cytoplasmic protein, acting as a homodimer to convert
            naturally-occuring but harmful superoxide radicals to molecular
            oxygen and hydrogen peroxide. The other isozyme is a mitochondrial
            protein. Mutations in this gene have been implicated as causes of
            familial amyotrophic lateral sclerosis. Rare transcript variants
            have been reported for this gene. [provided by RefSeq, Jul 2008].
            
            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 :: SRR1163657.518836.1,
                                           ERR279842.10182.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..154
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     Protein         1..154
                     /product="superoxide dismutase [Cu-Zn]"
                     /EC_number="1.15.1.1"
                     /note="indophenoloxidase A; SOD, soluble; superoxide
                     dismutase, cystolic; Cu/Zn superoxide dismutase;
                     epididymis secretory protein Li 44; superoxide dismutase
                     1, soluble"
                     /calculated_mol_wt=15805
     variation       2
                     /replace="v"
                     /db_xref="dbSNP:1297567794"
     Site            2
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N-acetylalanine. {ECO:0000244|PubMed:25944712,
                     ECO:0000269|PubMed:1463506, ECO:0000269|PubMed:7002610};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       3
                     /replace="t"
                     /db_xref="dbSNP:1387644283"
     Site            4
                     /site_type="modified"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-succinyllysine. {ECO:0000250|UniProtKB:P08228};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       5
                     /replace="a"
                     /db_xref="dbSNP:199766524"
     variation       5
                     /replace="t"
                     /db_xref="dbSNP:121912444"
     variation       5
                     /replace="v"
                     /db_xref="dbSNP:121912442"
     Site            order(6,8,18,20,51..53,114..115)
                     /site_type="other"
                     /note="E-class dimer interface [polypeptide binding]"
                     /db_xref="CDD:238186"
     variation       6
                     /replace="v"
                     /db_xref="dbSNP:1205921696"
     variation       7
                     /replace="g"
                     /db_xref="dbSNP:1312702973"
     variation       7
                     /replace="y"
                     /db_xref="dbSNP:121912448"
     variation       8
                     /replace="m"
                     /db_xref="dbSNP:1380854315"
     variation       9
                     /replace="l"
                     /db_xref="dbSNP:772764888"
     variation       10
                     /replace="q"
                     /db_xref="dbSNP:1236713490"
     Site            10
                     /site_type="modified"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-succinyllysine. {ECO:0000250|UniProtKB:P08228};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     Region          11..150
                     /region_name="Sod_Cu"
                     /note="Copper/zinc superoxide dismutase (SODC); pfam00080"
                     /db_xref="CDD:306566"
     variation       12
                     /replace="y"
                     /db_xref="dbSNP:762628133"
     variation       13
                     /replace="a"
                     /db_xref="dbSNP:1379845624"
     variation       13
                     /replace="g"
                     /db_xref="dbSNP:377178013"
     variation       13
                     /replace="r"
                     /db_xref="dbSNP:121912456"
     variation       15
                     /replace="a"
                     /db_xref="dbSNP:1202989817"
     variation       15
                     /replace="v"
                     /db_xref="dbSNP:1251222457"
     variation       16
                     /replace="r"
                     /db_xref="dbSNP:200016533"
     variation       17
                     /replace="a"
                     /db_xref="dbSNP:1200906022"
     variation       17
                     /replace="c"
                     /db_xref="dbSNP:121912453"
     variation       17
                     /replace="g"
                     /db_xref="dbSNP:200454724"
     variation       18
                     /replace="i"
                     /db_xref="dbSNP:1447729350"
     variation       18
                     /replace="v"
                     /db_xref="dbSNP:1460554436"
     variation       19
                     /replace="i"
                     /db_xref="dbSNP:1182088847"
     variation       20
                     /replace="s"
                     /db_xref="dbSNP:768029813"
     variation       22
                     /replace="e"
                     /db_xref="dbSNP:756458346"
     variation       22
                     /replace="k"
                     /db_xref="dbSNP:121912450"
     variation       23
                     /replace="h"
                     /db_xref="dbSNP:1424217272"
     variation       23
                     /replace="l"
                     /db_xref="dbSNP:1169198442"
     variation       24
                     /replace="k"
                     /db_xref="dbSNP:1467183070"
     variation       26
                     /replace="n"
                     /db_xref="dbSNP:747214897"
     variation       27
                     /replace="n"
                     /db_xref="dbSNP:1489004175"
     variation       28
                     /replace="g"
                     /db_xref="dbSNP:1217375069"
     variation       29
                     /replace="p"
                     /db_xref="dbSNP:145198224"
     variation       29
                     /replace="r"
                     /db_xref="dbSNP:11556621"
     variation       30
                     /replace="v"
                     /db_xref="dbSNP:748040402"
     Site            order(31,89)
                     /site_type="other"
                     /note="P-class dimer interface [polypeptide binding]"
                     /db_xref="CDD:238186"
     variation       32
                     /replace="g"
                     /db_xref="dbSNP:1428716759"
     variation       32
                     /replace="v"
                     /db_xref="dbSNP:769715106"
     variation       33
                     /replace="*"
                     /db_xref="dbSNP:1319528534"
     variation       35
                     /replace="i"
                     /db_xref="dbSNP:777560607"
     variation       36
                     /replace="f"
                     /db_xref="dbSNP:1057524474"
     variation       37
                     /replace="k"
                     /db_xref="dbSNP:1374061515"
     variation       38
                     /replace="g"
                     /db_xref="dbSNP:1405534640"
     variation       38
                     /replace="r"
                     /db_xref="dbSNP:121912431"
     variation       39
                     /replace="l"
                     /db_xref="dbSNP:200072460"
     variation       39
                     /replace="v"
                     /db_xref="dbSNP:121912432"
     variation       40
                     /replace="i"
                     /db_xref="dbSNP:1804450"
     variation       42
                     /replace="d"
                     /db_xref="dbSNP:121912434"
     variation       42
                     /replace="s"
                     /db_xref="dbSNP:121912433"
     variation       44
                     /replace="r"
                     /db_xref="dbSNP:121912435"
     variation       46
                     /replace="c"
                     /db_xref="dbSNP:121912457"
     variation       46
                     /replace="f"
                     /db_xref="dbSNP:1421563256"
     Site            order(47,49,64,81,84,121)
                     /site_type="active"
                     /db_xref="CDD:238186"
     Site            order(47,49,64,121)
                     /site_type="other"
                     /note="Cu2+ binding site [ion binding]"
                     /db_xref="CDD:238186"
     variation       47
                     /replace="r"
                     /db_xref="dbSNP:121912443"
     variation       47
                     /replace="y"
                     /db_xref="dbSNP:748897491"
     variation       50
                     /replace="e"
                     /db_xref="dbSNP:201045805"
     variation       50
                     /replace="g"
                     /db_xref="dbSNP:752237082"
     variation       50
                     /replace="v"
                     /db_xref="dbSNP:770404622"
     variation       51
                     /replace="c"
                     /db_xref="dbSNP:759149157"
     variation       53
                     /replace="d"
                     /db_xref="dbSNP:1276917683"
     variation       55
                     /replace="r"
                     /db_xref="dbSNP:986277034"
     variation       58
                     /replace="c"
                     /db_xref="dbSNP:1446483921"
     variation       60
                     /replace="n"
                     /db_xref="dbSNP:1413388444"
     variation       60
                     /replace="s"
                     /db_xref="dbSNP:373888553"
     variation       61
                     /replace="e"
                     /db_xref="dbSNP:1378635853"
     Site            order(64,72,81,84)
                     /site_type="other"
                     /note="Zn2+ binding site [ion binding]"
                     /db_xref="CDD:238186"
     variation       65
                     /replace="f"
                     /db_xref="dbSNP:147620646"
     variation       65
                     /replace="l"
                     /db_xref="dbSNP:1030039318"
     variation       67
                     /replace="p"
                     /db_xref="dbSNP:770457607"
     variation       67
                     /replace="s"
                     /db_xref="dbSNP:1356474292"
     variation       68
                     /replace="e"
                     /db_xref="dbSNP:1283021712"
     variation       68
                     /replace="l"
                     /db_xref="dbSNP:1422670461"
     variation       69
                     /replace="f"
                     /db_xref="dbSNP:778327622"
     variation       70
                     /replace="g"
                     /db_xref="dbSNP:1457291290"
     variation       72
                     /replace="h"
                     /db_xref="dbSNP:368042695"
     variation       73
                     /replace="s"
                     /db_xref="dbSNP:121912455"
     variation       74
                     /replace="g"
                     /db_xref="dbSNP:1459217491"
     variation       76
                     /replace="k"
                     /db_xref="dbSNP:1244025881"
     variation       77
                     /replace="d"
                     /db_xref="dbSNP:550738116"
     variation       81
                     /replace="r"
                     /db_xref="dbSNP:121912458"
     variation       82
                     /replace="v"
                     /db_xref="dbSNP:11556619"
     variation       85
                     /replace="f"
                     /db_xref="dbSNP:1315541036"
     variation       85
                     /replace="l"
                     /db_xref="dbSNP:121912452"
     variation       86
                     /replace="r"
                     /db_xref="dbSNP:121912436"
     variation       87
                     /replace="s"
                     /db_xref="dbSNP:11556620"
     variation       88
                     /replace="a"
                     /db_xref="dbSNP:1339283341"
     variation       88
                     /replace="v"
                     /db_xref="dbSNP:749831011"
     variation       90
                     /replace="v"
                     /db_xref="dbSNP:1280042397"
     variation       91
                     /replace="a"
                     /db_xref="dbSNP:80265967"
     variation       91
                     /replace="e"
                     /db_xref="dbSNP:1256439749"
     variation       91
                     /replace="n"
                     /db_xref="dbSNP:1343616996"
     variation       92
                     /replace="e"
                     /db_xref="dbSNP:1345907062"
     Site            92
                     /site_type="modified"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-succinyllysine. {ECO:0000250|UniProtKB:P08228};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       93
                     /replace="d"
                     /db_xref="dbSNP:759731506"
     variation       93
                     /replace="g"
                     /db_xref="dbSNP:774994509"
     variation       94
                     /replace="a"
                     /db_xref="dbSNP:121912438"
     variation       94
                     /replace="r"
                     /db_xref="dbSNP:121912437"
     variation       95
                     /replace="a"
                     /db_xref="dbSNP:202198235"
     variation       95
                     /replace="v"
                     /db_xref="dbSNP:998760030"
     variation       96
                     /replace="a"
                     /db_xref="dbSNP:557930089"
     variation       97
                     /replace="d"
                     /db_xref="dbSNP:111229903"
     variation       97
                     /replace="m"
                     /db_xref="dbSNP:780665387"
     variation       97
                     /replace="n"
                     /db_xref="dbSNP:121912459"
     variation       99
                     /replace="s"
                     /db_xref="dbSNP:1432013430"
     Site            99
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:18669648,
                     ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:24275569};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       100
                     /replace="v"
                     /db_xref="dbSNP:760740095"
     variation       101
                     /replace="*"
                     /db_xref="dbSNP:76731700"
     variation       101
                     /replace="g"
                     /db_xref="dbSNP:121912439"
     variation       103
                     /replace="a"
                     /db_xref="dbSNP:936838632"
     variation       103
                     /replace="s"
                     /db_xref="dbSNP:1220006790"
     Site            103
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000244|PubMed:24275569};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       105
                     /replace="f"
                     /db_xref="dbSNP:121912445"
     variation       105
                     /replace="t"
                     /db_xref="dbSNP:957386804"
     variation       106
                     /replace="l"
                     /db_xref="dbSNP:1378590183"
     variation       106
                     /replace="s"
                     /db_xref="dbSNP:763963373"
     Site            106
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000250|UniProtKB:P07632};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       107
                     /replace="l"
                     /db_xref="dbSNP:377269573"
     variation       107
                     /replace="v"
                     /db_xref="dbSNP:121912440"
     variation       108
                     /replace="s"
                     /db_xref="dbSNP:369415073"
     Site            108
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="Phosphoserine. {ECO:0000250|UniProtKB:P08228};
                     propagated from UniProtKB/Swiss-Prot (P00441.2)"
     variation       109
                     /replace="e"
                     /db_xref="dbSNP:1359299834"
     variation       110
                     /replace="e"
                     /db_xref="dbSNP:761014216"
     variation       110
                     /replace="y"
                     /db_xref="dbSNP:567432143"
     variation       113
                     /replace="i"
                     /db_xref="dbSNP:1299542356"
     variation       113
                     /replace="t"
                     /db_xref="dbSNP:74315452"
     variation       114
                     /replace="m"
                     /db_xref="dbSNP:750335577"
     variation       114
                     /replace="t"
                     /db_xref="dbSNP:121912441"
     variation       116
                     /replace="g"
                     /db_xref="dbSNP:1301635320"
     variation       116
                     /replace="h"
                     /db_xref="dbSNP:1240334553"
     variation       116
                     /replace="r"
                     /db_xref="dbSNP:1323278198"
     variation       117
                     /replace="t"
                     /db_xref="dbSNP:757951479"
     variation       118
                     /replace="l"
                     /db_xref="dbSNP:1222874696"
     variation       118
                     /replace="v"
                     /db_xref="dbSNP:199474723"
     variation       119
                     /replace="l"
                     /db_xref="dbSNP:1235629842"
     variation       119
                     /replace="v"
                     /db_xref="dbSNP:908732457"
     variation       120
                     /replace="l"
                     /db_xref="dbSNP:1457889952"
     variation       120
                     /replace="v"
                     /db_xref="dbSNP:1180155915"
     variation       121
                     /replace="h"
                     /db_xref="dbSNP:758204711"
     variation       121
                     /replace="r"
                     /db_xref="dbSNP:1410925719"
     Site            123
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine, alternate.
                     {ECO:0000244|PubMed:19608861}; propagated from
                     UniProtKB/Swiss-Prot (P00441.2)"
     Site            123
                     /site_type="modified"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-succinyllysine, alternate.
                     {ECO:0000269|PubMed:24140062}; propagated from
                     UniProtKB/Swiss-Prot (P00441.2)"
     variation       124
                     /replace="a"
                     /db_xref="dbSNP:1392029165"
     variation       126
                     /replace="a"
                     /db_xref="dbSNP:1164911383"
     variation       126
                     /replace="d"
                     /db_xref="dbSNP:765931024"
     variation       126
                     /replace="t"
                     /db_xref="dbSNP:1189788384"
     variation       127
                     /replace="*"
                     /db_xref="dbSNP:121912454"
     variation       130
                     /replace="s"
                     /db_xref="dbSNP:1464048449"
     variation       131
                     /replace="e"
                     /db_xref="dbSNP:1169621300"
     variation       131
                     /replace="g"
                     /db_xref="dbSNP:566007659"
     variation       132
                     /replace="n"
                     /db_xref="dbSNP:1027128618"
     variation       132
                     /replace="s"
                     /db_xref="dbSNP:1447747586"
     variation       135
                     /replace="n"
                     /db_xref="dbSNP:121912451"
     variation       136
                     /replace="i"
                     /db_xref="dbSNP:781031581"
     variation       137
                     /replace="k"
                     /db_xref="dbSNP:1395498224"
     Site            137
                     /site_type="other"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine, alternate.
                     {ECO:0000250|UniProtKB:P08228}; propagated from
                     UniProtKB/Swiss-Prot (P00441.2)"
     Site            137
                     /site_type="modified"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-succinyllysine, alternate.
                     {ECO:0000250|UniProtKB:P08228}; propagated from
                     UniProtKB/Swiss-Prot (P00441.2)"
     variation       138
                     /replace="t"
                     /db_xref="dbSNP:752378382"
     variation       140
                     /replace="n"
                     /db_xref="dbSNP:1804449"
     variation       141
                     /replace="a"
                     /db_xref="dbSNP:143100660"
     variation       141
                     /replace="t"
                     /db_xref="dbSNP:1217353001"
     variation       142
                     /replace="*"
                     /db_xref="dbSNP:1319062081"
     variation       143
                     /replace="n"
                     /db_xref="dbSNP:1200970313"
     variation       144
                     /replace="g"
                     /db_xref="dbSNP:746397967"
     variation       145
                     /replace="f"
                     /db_xref="dbSNP:1482760341"
     variation       145
                     /replace="s"
                     /db_xref="dbSNP:121912446"
     variation       146
                     /replace="d"
                     /db_xref="dbSNP:1131690781"
     variation       146
                     /replace="t"
                     /db_xref="dbSNP:121912447"
     variation       148
                     /replace="g"
                     /db_xref="dbSNP:372540831"
     variation       149
                     /replace="g"
                     /db_xref="dbSNP:1476760624"
     variation       149
                     /replace="i"
                     /db_xref="dbSNP:567511139"
     variation       150
                     /replace="t"
                     /db_xref="dbSNP:1424014997"
     variation       150
                     /replace="v"
                     /db_xref="dbSNP:1169917994"
     variation       152
                     /replace="i"
                     /db_xref="dbSNP:1173749241"
     variation       152
                     /replace="t"
                     /db_xref="dbSNP:121912449"
     variation       153
                     /replace="t"
                     /db_xref="dbSNP:747094021"
     variation       154
                     /replace="q"
                     /db_xref="dbSNP:1465781849"
     CDS             1..154
                     /gene="SOD1"
                     /gene_synonym="ALS; ALS1; HEL-S-44; homodimer; hSod1;
                     IPOA; SOD"
                     /coded_by="NM_000454.4:149..613"
                     /db_xref="CCDS:CCDS33536.1"
                     /db_xref="GeneID:6647"
                     /db_xref="HGNC:HGNC:11179"
                     /db_xref="MIM:147450"
ORIGIN      
        1 matkavcvlk gdgpvqgiin feqkesngpv kvwgsikglt eglhgfhvhe fgdntagcts
       61 agphfnplsr khggpkdeer hvgdlgnvta dkdgvadvsi edsvislsgd hciigrtlvv
      121 hekaddlgkg gneestktgn agsrlacgvi giaq
//
DBGET integrated database retrieval system