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

Mutations

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1358	c.1358C>T	p.Ser453Phe	Missense	Exon 11	2	4

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c.1358C>T, p.Ser453Phe

The sequence variant c.1358C>T in exon 11 changes serine in position 453 with phenylalanine (p.Ser453Phe). Studies in transfected cells show that p.Phe453 has retained some activity, is processed correctly and localized to the lysosomes. p.Ser453 is located in the active site area, and 3d-modelling indicates that p.Ser453Phe may destabilize the active site.