MSRB3

methionine sulfoxide reductase B3

Summary

The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

Known Variants96 total

rsidPosition (GRCh37)AllelesClassClinVar
rs731474112:65,672,106G/A—benign
rs54518980112:65,672,347C/T—likely benign
rs94922909812:65,672,550T/G—likely pathogenic
rs18272678012:65,672,558C/A—benign
rs130458075912:65,672,567C/T—uncertain significance
rs37349723312:65,672,575C/T—likely benign
rs20077809112:65,672,579C/A—uncertain significance
rs15057216012:65,672,587C/T—likely benign
rs37771314812:65,672,601G/A—uncertain significance
rs14975787812:65,672,602C/T—likely benign
rs57149232312:65,672,621G/A—uncertain significance
rs187181934312:65,672,622C/T—uncertain significance
rs36810458812:65,672,630G/C—conflicting classifications of pathogenicity
rs117817803712:65,672,644C/T—uncertain significance
rs132738120412:65,672,653C/G—likely benign
rs213642060912:65,700,807G/A—uncertain significance
rs11551461312:65,701,968C/T—likely benign
rs146095935112:65,702,366G/A—uncertain significance
rs86789772112:65,702,373A/G—uncertain significance
rs75164501112:65,702,374C/A—uncertain significance
rs14925839012:65,702,414C/Tregulatory region variantpathogenic
rs19989671412:65,702,442G/T—conflicting classifications of pathogenicity
rs1717800612:65,718,299T/Gintron variant—
rs14570469312:65,720,604A/G—conflicting classifications of pathogenicity
rs37081257012:65,720,609C/T—uncertain significance
rs55531638112:65,720,610G/A—likely benign
rs11459947612:65,720,643T/C—likely benign
rs249900832112:65,720,651A/G—uncertain significance
rs74610746912:65,720,674C/A—uncertain significance
rs37620260512:65,720,677C/T—likely benign
rs133778316012:65,720,703A/G—likely benign
rs132803491012:65,720,705G/A—uncertain significance
rs14769893512:65,720,709C/T—likely benign
rs249900902012:65,720,713A/C—uncertain significance
rs131362798412:65,720,715G/T—likely pathogenic
rs145954544612:65,720,721T/A—likely benign
rs1229724412:65,720,824A/G—benign
rs6192147512:65,721,017G/A—likely benign
rs18315096912:65,722,318A/C—likely benign
rs14250085312:65,722,342T/C—likely benign
rs14333339912:65,722,354A/G—likely benign
rs38790708812:65,722,364T/Gmissense variantpathogenic
rs90192446412:65,722,403A/G—likely benign
rs6162198412:65,722,648G/A—benign
rs7630222112:65,740,681T/C——
rs14216643012:65,747,729T/C——
rs199222712:65,761,694C/T——
rs1222991812:65,762,058G/T——
rs20130670912:65,762,777G/Asplice region variantpathogenic
rs15130748712:65,762,799C/T—likely benign
rs54250161312:65,762,800G/A—uncertain significance
rs20009645112:65,762,817A/G—likely benign
rs6137648612:65,762,875C/T—benign
rs1717813912:65,765,944G/Aintron variant—
rs1281074412:65,782,040C/Tintron variant—
rs1050652512:65,783,378T/Cintron variant—
rs1087826912:65,791,463C/Tintron variant—
rs1282574812:65,793,153G/Cintron variant—
rs233671412:65,797,106T/Cintron variant—
rs20041192512:65,816,182A/G——
rs149450212:65,824,670A/Gregulatory region variant—
rs6192150212:65,832,468T/Gintron variant—
rs5616010212:65,837,570C/Gintron variant—
rs149450812:65,842,258A/C——
rs14239704212:65,847,399A/G—likely benign
rs7599046112:65,847,502T/C—benign
rs77487983112:65,847,506A/G—likely pathogenic
rs249936946412:65,847,515T/A—likely benign
rs14060067912:65,847,524C/T—likely benign
rs72750316212:65,847,525G/A—uncertain significance
rs75030594712:65,847,542G/A—likely benign
rs249936965112:65,847,552T/C—uncertain significance
rs37222262512:65,847,557A/C—likely benign
rs3451308812:65,847,572T/C—benign
rs188296698012:65,847,598G/A—uncertain significance
rs8034921512:65,847,706G/A—benign
rs11462889412:65,847,842T/A—likely benign
rs6049334012:65,856,151T/A——
rs6192150612:65,856,899C/T—benign
rs75091671712:65,856,923C/T—likely benign
rs75884855112:65,856,928C/G—uncertain significance
rs75190677812:65,856,934G/A—pathogenic
rs213672246912:65,856,950G/A—likely pathogenic
rs77735250912:65,856,975G/A—uncertain significance
rs26760363012:65,857,005C/T—uncertain significance
rs14153285912:65,857,027T/C—likely benign
rs3539331612:65,857,030G/A—likely benign
rs14248807512:65,857,046G/A—uncertain significance
rs249939309812:65,857,047C/T—uncertain significance
rs76535602712:65,857,048C/T—likely benign
rs37048862812:65,857,066C/T—likely benign
rs20020141812:65,857,067G/A—conflicting classifications of pathogenicity
rs130176602812:65,857,071G/A—uncertain significance
rs14403829612:65,857,074C/T—conflicting classifications of pathogenicity
rs14867512212:65,857,075G/A—likely benign
rs37131412812:65,857,093G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.