The sequence variant c.1441G>T (dbSNP rs34544747) in exon 12 changes alanine in amino acid position 481 to serine (p.Ala481Ser). It has a minor allele frequency of 0.02-0.05 in different populations, and is considered a common, benign SNP. Amino acid residue 481 is located on the surface of the MAN2B1 protein, and studies in transfected cells show that p.Ser481is active and processed correctly. |
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