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

Mutations

Reset Report

Report Settings

ToggleEditMutation = 'c.2402G>A'
ToggleEditBenign Mutations
ToggleEditAnimal Model

Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2402	c.2402G>A	p.Gly801Asp	Missense	Exon 20

1 - 1 of 1

c.2402G>A, p.Gly801Asp

The sequence variant c.2402G>A in exon 20 changes glycine in position 801 to aspartic acid (p.Gly801Asp). Studies in transfected cells show that p.Asp801 is inactive. p.Gly801 is located in the interior of the enzyme, and 3d-modelling indicates that p.Gly801Asp causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 20

Number of Patients

References

Sbaragli et al. 2005

Primary Mutation Type Distribution