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.2746C>A'
ToggleEditBenign Mutations
ToggleEditAnimal Model

Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2746	c.2746C>A	p.Arg916Ser	Missense	Exon 22

1 - 1 of 1

c.2746C>A, p.Arg916Ser

The sequence variant c.2746C>A in exon 22 changes arginine in position 916 to serine (p.Arg916SEr). Studies in transfected cells show that p.Ser916 is inactive. p.Arg916 is located to a domain interface, and 3d-modelling indicates that p.Arg916Ser causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 22

Number of Patients

References

Pittis et al. 2007

Primary Mutation Type Distribution