rs148108322
This variant is located in the MAN2B1 gene.
▶ClinVar annotation
not provided; Deficiency of alpha-mannosidase; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutationsCase reportN=130Hilde Monica Frostad Riise Stensland et al.(2012)· Human Mutation
This study identified 83 novel alpha-mannosidosis-associated sequence variants in 130 unrelated patients, extending the known mutation spectrum from 42 to 125. The most frequent variant, c.2248C>T (p.Arg750Trp), was detected in 50 patients from 16 countries and accounted for 27.3% of disease alleles, occurring on a major ancestral haplotype consistent with founder effects. Functional studies showed that most missense mutations lacked enzymatic activity, but 10 retained detectable MAN2B1 activity above background.
About MAN2B1
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]
View all MAN2B1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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