PSEN2

presenilin 2

Summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]

Known Variants261 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1863081261:227,058,300C/T—likely benign
rs127589151:227,058,344A/G—benign
rs5561460071:227,058,848A/G—uncertain significance
rs66650331:227,058,974A/G—likely benign
rs1995328401:227,059,034C/T—uncertain significance
rs12956451:227,059,037C/Tregulatory region variantbenign
rs1495901621:227,063,088C/T—uncertain significance
rs8860460611:227,063,128A/G—uncertain significance
rs16605719551:227,063,136G/A—uncertain significance
rs2006070631:227,063,190T/C—uncertain significance
rs79611:227,063,229C/T—benign
rs20734891:227,063,671T/Cregulatory region variant—
rs7626743121:227,069,610T/G—uncertain significance
rs25279416191:227,069,624G/A—uncertain significance
rs7862052851:227,069,633A/G—uncertain significance
rs7668537101:227,069,646T/C—uncertain significance
rs1996441161:227,069,657C/T—uncertain significance
rs1430618871:227,069,661C/T—uncertain significance
rs2010189131:227,069,662G/A—likely benign
rs3676450691:227,069,674G/A—likely benign
rs114051:227,069,677T/Csynonymous variantbenign
rs1493543051:227,069,688C/T—uncertain significance
rs3714752701:227,069,692G/A—likely benign
rs1428924691:227,069,693C/T—uncertain significance
rs2000377711:227,069,697C/T—uncertain significance
rs2006363531:227,069,708G/A—conflicting classifications of pathogenicity
rs13790561441:227,069,713G/T—uncertain significance
rs15719480471:227,069,728T/C—likely benign
rs67591:227,069,737C/Tsynonymous variantbenign
rs1432277621:227,069,740T/A—likely benign
rs21026683691:227,069,747T/G—uncertain significance
rs14126825211:227,069,748G/A—uncertain significance
rs12492758741:227,069,760C/G—likely benign
rs766551901:227,069,779A/G—likely benign
rs1161712451:227,069,807A/G—likely benign
rs120713241:227,069,874C/G—benign
rs12956431:227,071,364G/A—benign
rs12956441:227,071,377T/C—benign
rs596835451:227,071,383C/T—benign
rs7773969991:227,071,389G/A—likely benign
rs1996995081:227,071,390A/C—likely benign
rs1435018701:227,071,413A/G—conflicting classifications of pathogenicity
rs7496752081:227,071,420C/T—likely benign
rs1468944661:227,071,426G/C—likely benign
rs1393328861:227,071,429C/A—uncertain significance
rs1885981901:227,071,430G/A—conflicting classifications of pathogenicity
rs7675779931:227,071,441C/T—likely benign
rs1504003871:227,071,448C/Tmissense variantuncertain significance
rs589733341:227,071,449G/A—likely benign
rs7664461601:227,071,458G/A—uncertain significance
rs16611526241:227,071,465G/C—likely benign
rs7651447191:227,071,467T/C—uncertain significance
rs2021333511:227,071,469C/G—conflicting classifications of pathogenicity
rs1425460821:227,071,471C/T—likely benign
rs1399721511:227,071,472G/A—conflicting classifications of pathogenicity
rs1405019021:227,071,475C/T—likely benign
rs15719512801:227,071,480G/A—likely benign
rs25279516621:227,071,481C/T—uncertain significance
rs7723721581:227,071,483A/C—likely benign
rs7735227731:227,071,486C/G—conflicting classifications of pathogenicity
rs7609612971:227,071,500T/C—uncertain significance
rs14057999881:227,071,505C/T—uncertain significance
rs11657385591:227,071,509A/C—uncertain significance
rs5493789581:227,071,513C/T—likely benign
rs13027503661:227,071,514G/A—uncertain significance
rs637500481:227,071,518C/Tmissense variantpathogenic
rs7650237511:227,071,519G/A—likely benign
rs10462401:227,071,525C/T—benign
rs7580861691:227,071,526G/A—uncertain significance
rs9212547421:227,071,537G/C—likely benign
rs21026726911:227,071,541G/A—uncertain significance
rs2003506401:227,071,543G/C—likely benign
rs1467185241:227,071,558C/T—likely benign
rs11827077591:227,071,562A/G—uncertain significance
rs2008019151:227,071,564C/T—conflicting classifications of pathogenicity
rs15719515431:227,071,569T/C—uncertain significance
rs7485725091:227,071,570G/A—likely benign
rs21026728061:227,071,571G/A—uncertain significance
rs15719515611:227,071,578C/T—uncertain significance
rs1998087881:227,071,592C/T—uncertain significance
rs2006100571:227,071,600C/T—conflicting classifications of pathogenicity
rs2011191211:227,071,612T/A—uncertain significance
rs13398226091:227,071,613G/A—uncertain significance
rs7670916931:227,071,670A/G—benign
rs120576181:227,071,703A/C—benign
rs355199611:227,071,766T/C—benign
rs637498511:227,073,246A/Cmissense variantpathogenic
rs289363801:227,073,247C/Gmissense variantpathogenic
rs1489967051:227,073,248G/A—likely benign
rs25279628541:227,073,250C/T—uncertain significance
rs7533711721:227,073,254C/T—likely benign
rs7589851611:227,073,257T/C—likely benign
rs11777686151:227,073,269C/T—likely benign
rs637501971:227,073,271C/Tmissense variantlikely benign
rs7815979711:227,073,272G/C—likely benign
rs7563469171:227,073,283G/A—uncertain significance
rs7493015951:227,073,292A/G—uncertain significance
rs7477386071:227,073,296C/T—likely benign
rs2021788971:227,073,297G/A—conflicting classifications of pathogenicity
rs617612081:227,073,303A/Tmissense variant—

Showing 100 of 261 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.