SOD1

superoxide dismutase 1

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. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. 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 2020]

Known Variants201 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1788127421:33,031,180C/Tupstream gene variant—
rs1788329621:33,031,822G/T—likely benign
rs1787885521:33,031,927G/C—likely benign
rs727774821:33,031,974A/Gregulatory region variantbenign
rs56898563221:33,031,992C/G—uncertain significance
rs13920213921:33,031,996G/A—uncertain significance
rs57354416521:33,031,999C/G—uncertain significance
rs37742768321:33,032,000T/C—benign
rs53506611921:33,032,027T/A—uncertain significance
rs1698839521:33,032,028C/T—uncertain significance
rs14275298621:33,032,035T/A—benign
rs57119905721:33,032,057A/G—likely benign
rs102953211221:33,032,080G/A—likely benign
rs156880729721:33,032,092A/G—pathogenic
rs12191244421:33,032,095G/Tmissense variantpathogenic
rs12191244221:33,032,096C/Tmissense variantpathogenic
rs19976652421:33,032,097C/T—likely benign
rs156880731421:33,032,098G/A—likely pathogenic
rs212342798821:33,032,099T/C—uncertain significance
rs131270297321:33,032,101T/A—pathogenic
rs12191244821:33,032,102G/Tmissense variantpathogenic
rs156880733321:33,032,107C/G—uncertain significance
rs156880734221:33,032,108T/A—likely pathogenic
rs77276488821:33,032,109G/A—likely benign
rs76262813321:33,032,116G/T—conflicting classifications of pathogenicity
rs12191245621:33,032,119G/Cmissense variantpathogenic
rs37717801321:33,032,121C/T—likely benign
rs156880740021:33,032,125G/A—pathogenic
rs120298981721:33,032,126T/G—likely pathogenic
rs12191245321:33,032,131G/Amissense variantpathogenic
rs120090602221:33,032,132G/C—pathogenic
rs144772935021:33,032,136C/A—likely benign
rs251665413121:33,032,137A/T—uncertain significance
rs160115343821:33,032,138T/C—uncertain significance
rs76802981321:33,032,141A/G—conflicting classifications of pathogenicity
rs160115346421:33,032,142T/C—likely benign
rs155583616921:33,032,144T/G—pathogenic
rs155583617021:33,032,145C/G—pathogenic
rs12191245021:33,032,146G/Amissense variantpathogenic
rs75645834621:33,032,148G/A—conflicting classifications of pathogenicity
rs116919844221:33,032,150A/T—pathogenic
rs142421727221:33,032,151G/C—conflicting classifications of pathogenicity
rs75434785221:33,032,167A/G—likely benign
rs20157408921:33,032,173G/A—likely benign
rs37448461021:33,032,174C/T—uncertain significance
rs1788118021:33,032,287C/T—benign
rs481640521:33,033,001C/Gupstream gene variant—
rs499855721:33,034,892G/Aupstream gene variant—
rs1788423321:33,035,963G/C—benign
rs1698840421:33,035,995T/A—benign
rs20076411021:33,036,095T/C—likely benign
rs37424230621:33,036,099A/G—likely benign
rs204956927421:33,036,105A/G—uncertain significance
rs14519822421:33,036,117A/G—likely benign
rs212343186721:33,036,123G/C—uncertain significance
rs142871675921:33,036,125T/C—conflicting classifications of pathogenicity
rs76971510621:33,036,126G/A—likely benign
rs204956957221:33,036,127T/C—uncertain significance
rs105752447421:33,036,136A/T—uncertain significance
rs12191243121:33,036,142G/Amissense variantpathogenic
rs12191243221:33,036,145C/Gmissense variantpathogenic
rs155583652021:33,036,146T/A—likely pathogenic
rs180445021:33,036,149C/Tmissense variant—
rs156880914921:33,036,152A/G—pathogenic
rs12191243321:33,036,154G/Amissense variantpathogenic
rs12191243421:33,036,155G/Amissense variantpathogenic
rs12191243521:33,036,161A/Gmissense variantpathogenic
rs12191245721:33,036,167T/Gmissense variantpathogenic
rs12191244321:33,036,170A/Gmissense variantpathogenic
rs156880916921:33,036,173T/C—pathogenic
rs156880917221:33,036,176A/G—pathogenic
rs156880917821:33,036,178G/A—uncertain significance
rs20104580521:33,036,180G/A—likely benign
rs127691768321:33,036,189T/C—likely benign
rs251665764821:33,036,195A/G—likely benign
rs1043278221:33,036,391T/Gupstream gene variantbenign
rs1788583321:33,038,742T/C—benign
rs37081616221:33,038,751C/T—likely benign
rs141338844421:33,038,771G/T—uncertain significance
rs37388855321:33,038,772T/C—likely benign
rs103003931821:33,038,785T/C—conflicting classifications of pathogenicity
rs14762064621:33,038,787T/C—likely benign
rs156881027521:33,038,789A/G—pathogenic
rs204959420421:33,038,797T/C—likely pathogenic
rs145729129021:33,038,800A/G—uncertain significance
rs204959431121:33,038,806C/T—likely pathogenic
rs36804269521:33,038,808C/G—uncertain significance
rs12191245521:33,038,809G/Tmissense variantuncertain significance
rs155583672021:33,038,812G/A—uncertain significance
rs160115775021:33,038,821G/T—pathogenic
rs156881031621:33,038,822A/T—pathogenic
rs37461014121:33,038,837A/C—conflicting classifications of pathogenicity
rs76657436821:33,038,846A/T—likely benign
rs212343467721:33,038,848C/G—likely benign
rs223469421:33,038,865A/Cregulatory region variantbenign
rs7731947421:33,039,039G/A—likely benign
rs1788563421:33,039,074A/G—benign
rs207042421:33,039,320A/Gcoding sequence variantbenign
rs77980286221:33,039,555G/A—likely benign
rs204960194121:33,039,556C/G—likely benign

Showing 100 of 201 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.