MAN2B1

mannosidase alpha class 2B member 1

Summary

This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

Known Variants1,300 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54734966719:12,757,329G/C—uncertain significance
rs88605422719:12,757,334A/C—uncertain significance
rs14510810119:12,757,343G/A—uncertain significance
rs14910113619:12,757,392C/T—likely benign
rs37171606919:12,757,393G/A—uncertain significance
rs138846927919:12,757,437A/G—likely benign
rs123383009119:12,757,440A/G—likely benign
rs77044123619:12,757,446C/T—likely benign
rs57039784919:12,757,455T/C—likely benign
rs145673806619:12,757,457G/A—uncertain significance
rs76454555419:12,757,461T/C—likely benign
rs202369420419:12,757,464G/T—conflicting classifications of pathogenicity
rs129476448819:12,757,466C/T—uncertain significance
rs76210411519:12,757,468A/G—uncertain significance
rs76563343219:12,757,470G/A—likely benign
rs86462199119:12,757,471A/G—likely pathogenic
rs202369465519:12,757,476G/A—likely benign
rs20217451519:12,757,477C/T—benign
rs75875529319:12,757,478G/A—conflicting classifications of pathogenicity
rs88605422819:12,757,479G/A—conflicting classifications of pathogenicity
rs251248320419:12,757,488G/A—likely benign
rs251248323719:12,757,496G/A—likely benign
rs14894510819:12,757,497C/T—conflicting classifications of pathogenicity
rs77748462119:12,757,500G/T—likely benign
rs155570586919:12,757,502T/C—uncertain significance
rs75339717119:12,757,504T/C—conflicting classifications of pathogenicity
rs214521764919:12,757,506G/C—likely benign
rs36965814419:12,757,509C/T—likely benign
rs37317456519:12,757,510G/A—uncertain significance
rs76235560019:12,757,518C/T—likely benign
rs19218470619:12,757,524C/T—likely benign
rs37685694919:12,757,525G/A—uncertain significance
rs202369684919:12,757,534T/C—uncertain significance
rs202369692719:12,757,536G/A—likely benign
rs76338294819:12,757,538G/T—uncertain significance
rs76655906219:12,757,543G/A—uncertain significance
rs76756497919:12,757,550G/A—likely benign
rs251248340219:12,757,552G/A—likely benign
rs251248341219:12,757,555G/A—likely benign
rs120439693019:12,757,556T/C—likely benign
rs251248343219:12,757,562G/A—likely benign
rs251248344219:12,757,565A/C—likely benign
rs14441020219:12,757,696G/A—likely benign
rs6116169119:12,757,698C/T—benign
rs5955685619:12,757,997C/T—likely benign
rs122951668719:12,758,027A/T—likely benign
rs37382152219:12,758,031C/T—likely benign
rs202370886419:12,758,035C/T—likely benign
rs251248424019:12,758,037A/C—likely benign
rs77128861119:12,758,038G/A—likely benign
rs105751689719:12,758,048——pathogenic
rs14808069519:12,758,053T/C—likely benign
rs214521994419:12,758,057T/C—likely benign
rs202370967719:12,758,058G/A—uncertain significance
rs132314101519:12,758,064T/C—uncertain significance
rs20043186919:12,758,067A/G—uncertain significance
rs214522004419:12,758,072G/A—likely benign
rs136553231519:12,758,074A/C—uncertain significance
rs37743870019:12,758,078T/C—likely benign
rs75707294819:12,758,083C/A—pathogenic
rs14279798419:12,758,084G/A—conflicting classifications of pathogenicity
rs75017381219:12,758,085C/T—uncertain significance
rs37027605719:12,758,086G/A—benign
rs137677172919:12,758,087G/T—conflicting classifications of pathogenicity
rs202371111519:12,758,091T/C—uncertain significance
rs54456754619:12,758,093G/A—likely benign
rs74657109419:12,758,100A/G—conflicting classifications of pathogenicity
rs76823324819:12,758,103A/C—conflicting classifications of pathogenicity
rs14810832219:12,758,105C/G—conflicting classifications of pathogenicity
rs77121066819:12,758,106G/A—uncertain significance
rs214522038219:12,758,108G/A—likely benign
rs131886197019:12,758,114C/T—likely benign
rs214522042519:12,758,117C/T—likely benign
rs214522043619:12,758,120G/T—likely benign
rs13904111219:12,758,121C/G—conflicting classifications of pathogenicity
rs132572195619:12,758,123G/A—likely benign
rs37756786119:12,758,124G/A—uncertain significance
rs127454026819:12,758,126G/A—likely benign
rs159933801419:12,758,129G/T—likely benign
rs251248451119:12,758,135G/A—likely benign
rs214522057419:12,758,144C/T—likely benign
rs251248454519:12,758,151T/C—likely pathogenic
rs75377638719:12,758,153C/T—likely benign
rs76187044619:12,758,154G/A—likely benign
rs202371316519:12,758,156G/T—likely benign
rs251248455819:12,758,157G/T—likely benign
rs123039800719:12,758,158A/G—likely benign
rs124836346719:12,758,161G/A—likely benign
rs76508496619:12,758,162G/T—likely benign
rs37057949919:12,758,165T/G—likely benign
rs104781272519:12,758,166G/C—likely benign
rs118780833119:12,758,168G/A—likely benign
rs202371374319:12,758,169C/T—likely benign
rs251248467019:12,758,237C/T—likely benign
rs251248467719:12,758,240A/C—likely benign
rs214522105719:12,758,247C/T—likely benign
rs251248469019:12,758,248C/G—likely benign
rs101107850019:12,758,249C/T—likely benign
rs251248470119:12,758,250T/G—likely benign
rs76873413219:12,758,256C/T—likely pathogenic

Showing 100 of 1,300 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.