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
	788	c.788C>T	p.Pro263Leu	Missense	Exon 6	1	1

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c.788C>T, p.Pro263Leu

The sequence variant c.788C>T in exon 6 changes proline in position 263 to leucine (p.Pro263Leu). Studies in transfected cells show that p.Leu263 is inactive, but processed correctly and localized to the lysosomes. p.Pro263 is located close to the disulphide bridge between p.Cys268 and p.Cys273, and 3d-modelling indicates that p.Pro263Leu may interfere with the formation of this disulphide bridge, causing destabilisation of the enzyme.