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.His200Asn'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	598	c.598C>A	p.His200Asn	Missense	Exon 4	2	2

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c.598C>A, p.His200Asn

The sequence variant c.598C>A in exon 4 changes histidine in position 200 to asparagine (p.His200Asn). Studies in transfected cells show that p.Asn200 is processed correctly, localized to the lysosomes and has retained some activity in one cell-type, but is inactive in another cell-type. p.His200 is located in the active site area, and 3d-modelling indicates that the substitution changes the stability of the active site.