AGA

aspartylglucosaminidase

Summary

This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]

Known Variants420 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7453805994:178,351,947C/T—uncertain significance
rs37494794:178,351,980T/G—benign
rs8860592584:178,351,994G/C—uncertain significance
rs17366075614:178,352,006G/C—uncertain significance
rs1820813004:178,352,010G/A—uncertain significance
rs1861844114:178,352,011C/T—uncertain significance
rs1490218554:178,352,012G/A—uncertain significance
rs5406468644:178,352,110C/G—uncertain significance
rs729886424:178,352,144C/T—uncertain significance
rs8860592594:178,352,182C/T—uncertain significance
rs11751935674:178,352,227T/C—uncertain significance
rs37494784:178,352,405T/C—uncertain significance
rs1430280694:178,352,545A/G—uncertain significance
rs125023014:178,352,642C/G—conflicting classifications of pathogenicity
rs7554588074:178,352,643A/G—uncertain significance
rs5466449174:178,352,655A/G—uncertain significance
rs10618144:178,352,679G/T—benign
rs1849053244:178,352,726A/G—uncertain significance
rs1414242404:178,352,766T/A—uncertain significance
rs7524528784:178,352,814C/T—uncertain significance
rs7671542964:178,352,827C/G—uncertain significance
rs17366403774:178,352,849C/G—uncertain significance
rs1123072094:178,352,854A/G—uncertain significance
rs17366407404:178,352,859G/A—uncertain significance
rs24768409414:178,352,865G/T—likely benign
rs24768409574:178,352,870A/G—uncertain significance
rs7768650784:178,352,873C/G—uncertain significance
rs1134072704:178,352,880C/T—conflicting classifications of pathogenicity
rs17366415654:178,352,885C/A—pathogenic
rs21110045184:178,352,886A/C—likely benign
rs1511053904:178,352,897T/G—uncertain significance
rs7636159624:178,352,903C/T—uncertain significance
rs14795795644:178,352,904G/A—likely benign
rs12017847424:178,352,910A/C—likely pathogenic
rs7740515274:178,352,916C/G—uncertain significance
rs3690357924:178,352,924T/C—conflicting classifications of pathogenicity
rs3738783474:178,352,925A/C—uncertain significance
rs17366437904:178,352,932G/A—likely benign
rs7536257194:178,352,937T/C—likely benign
rs568490614:178,352,938G/A—likely benign
rs17366442814:178,352,943A/C—likely benign
rs24768413924:178,352,955A/G—likely benign
rs24768414364:178,352,963C/A—likely pathogenic
rs15539939214:178,352,964T/C—likely pathogenic
rs3776220824:178,352,967G/A—likely benign
rs7483460034:178,352,969C/A—likely benign
rs14580919764:178,352,970C/A—likely benign
rs24768414994:178,352,979G/A—likely benign
rs7698990784:178,352,982A/G—likely benign
rs38051674:178,353,046C/G—benign
rs1148912444:178,353,215C/T—likely benign
rs14585539414:178,354,348A/G—likely benign
rs24768454774:178,354,355A/G—likely benign
rs21110067104:178,354,359A/G—likely benign
rs21110067154:178,354,360C/T—likely benign
rs3868334374:178,354,367C/Asplice region variantpathogenic
rs1498708674:178,354,368C/T—uncertain significance
rs7527185144:178,354,369G/A—uncertain significance
rs24768455664:178,354,372A/G—likely benign
rs7635687794:178,354,373C/T—uncertain significance
rs3712214704:178,354,385T/C—conflicting classifications of pathogenicity
rs7496984724:178,354,390A/G—likely benign
rs1219649064:178,354,392A/Gmissense variantpathogenic
rs17366856724:178,354,393T/C—uncertain significance
rs3736169484:178,354,394A/C—uncertain significance
rs9460733434:178,354,395T/A—uncertain significance
rs21110068404:178,354,402C/T—likely benign
rs1219649054:178,354,404C/Tmissense variantpathogenic
rs359161664:178,354,406A/C—uncertain significance
rs21110068594:178,354,408G/T—uncertain significance
rs24768457884:178,354,410A/G—uncertain significance
rs21110068644:178,354,411T/C—likely benign
rs7600827874:178,354,414T/C—likely benign
rs340191194:178,354,423C/T—conflicting classifications of pathogenicity
rs7762287494:178,354,429G/A—likely benign
rs7649569114:178,354,434T/C—uncertain significance
rs24768458674:178,354,438A/G—likely benign
rs24768458784:178,354,441C/G—likely benign
rs7502086954:178,354,443C/T—uncertain significance
rs17366877304:178,354,449G/A—pathogenic
rs7630189184:178,354,454G/A—uncertain significance
rs5403973944:178,354,456T/A—likely benign
rs21110069634:178,354,464G/C—uncertain significance
rs3688409654:178,354,471T/G—likely benign
rs24768461524:178,354,483G/C—likely pathogenic
rs12548449894:178,354,484T/C—uncertain significance
rs21110070394:178,354,486T/C—likely benign
rs24768461854:178,354,492A/G—likely benign
rs24768462034:178,354,498G/A—likely benign
rs7461863364:178,354,499T/C—uncertain significance
rs24768462314:178,354,502C/T—likely pathogenic
rs17366902294:178,354,504G/A—uncertain significance
rs17366904714:178,354,509A/T—likely benign
rs7803759734:178,354,512C/G—likely benign
rs7465615464:178,354,516G/A—likely benign
rs7762821004:178,354,518T/G—likely benign
rs22799314:178,354,667A/C—benign
rs100314294:178,354,680T/A—benign
rs1463998124:178,355,304C/T—likely benign
rs350789524:178,355,334G/C—benign

Showing 100 of 420 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.