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.935C>T'
ToggleEditBenign Mutations
ToggleEditAnimal Model

Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	935	c.935C>T	p.Thr312Ile	Benign	Exon 7

1 - 1 of 1

c.935C>T, p.Thr312Ile

The sequence variant c.935C>T (dbSNP rs1054487) in exon 7 changes threonine in amino acid position 312 to isoleucine (p.Thr312Ile). It has a minor allele frequency of 0.31-0.41 in different populations, and is considered a common, benign SNP. Studies in transfected cells show that p.Ile312 is active and processed correctly.