alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis

Mutations

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1010	c.1010G>A	p.Arg337Gln	Benign	Exon 7

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c.1010G>A, p.Arg337Gln

The sequence variant c.1010G>A (dbSNP rs1133330) in exon 7 changes argnine in amino acid position 337 with glutamine (p.Arg337Gln). It has a minor allele frequency of 0.26-0.41 in different populations, and is considered a common, benign SNP. Amino acid residue 337 is located on the surface of the MAN2B1 protein, and studies in transfected cells show that p.Gln337 is active and processed correctly.