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

Mutations

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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1553	c.1553T>C	p.Leu518Pro	Missense	Exon 13

1 - 1 of 1

c.1553T>C, p.Leu518Pro

The sequence variant c.1553T>C in exon 13 changes leucine in position 518 to proline (p.Leu518Pro). Studies in transfected cells show that p.Pro518 is inactive. 3d-modelling indicates that p.Leu518Pro causes misfolding of the enzyme.

Mutation Details

Mutation type

Missense

Localization

Exon 13

Number of Patients

References

Pittis et al. 2007

Primary Mutation Type Distribution