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.Pro197Arg'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	590	c.590C>G	p.Pro197Arg	Missense	Exon 4	1	1

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c.590C>G, p.Pro197Arg

The sequence variant c.590C>G in exon 4 changes proline in position 197 to arginine (p.Pro197Arg). Studies in transfected cells show that p.Arg197 is inactive, not processed and localized to the lysosomes in one cell-type, but retained in the ER in another cell-type. p.Pro197 is located in the active site area.