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

Mutations

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ToggleEditProtein contains 'p.Glu402Lys'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1204	c.1204G>A	p.Glu402Lys	Benign	Exon 9	1	1

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c.1204G>A, p.Glu402Lys

The sequence variant c.1204G>A (dbSNP rs1054486) in exon 9 changes glutamic acid in amino acid position 402 to lysine (p.Glu402Lys. It has not been detected among controls, and in patients it always appears on the same allele (in cis) as the splice site mutation c.1026+2A>G in intron 7. Studies in transfected cells show that p.Lys402 is active, processed correctly and localized to the lysosomes. It is considered a rare, benign variant in linkage disequilibrium with a more severe variant.