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
	832	c.832C>G	p.Leu278Val	Benign	Exon 6

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c.832C>G, p.Leu278Val

The sequence variant c.832C>G (dbSNP rs1054486) in exon 6 changes leucine in amino acid position 278 to valine (p.Leu278Val). It has a minor allele frequency of 0.23-0.48 in different populations, and is considered a common, benign, SNP. Studies in transfected cells show that p.Val278 is active and processed correctly.