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

Mutations

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ToggleEditProtein contains 'p.Ser453Tyr'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1358	c.1358C>A	p.Ser453Tyr	Missense	Exon 11	1	2

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c.1358C>A, p.Ser453Tyr

The sequence variant c.1358C>A in exon 11 changes serine in position 453 with tyrosine (p.Ser453Tyr). Studies in transfected cells show that p.Tyr453 is inactive, not processed and retained in the ER. p.Ser453 is located in the active site area, and 3d-modelling indicates that p.Ser453Tyr may destabilize the active site.