The sequence variant c.1238A>G (dbSNP rs35836657) in exon 10 changes asparagine in amino acid position 413 to serine (p.Asn413Ser). It has a minor allele frequency of 0.05-0.26 in different populations, and is considered a common, benign SNP. Amino acid residue 413 is located on the surface of the MAN2B1 protein, and studies in transfected cells show that p.Ser413 is active and processed correctly. |
|