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

Mutations

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ToggleEditMutation = 'c.2234C>G'

Mutation

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2234	c.2234C>G	p.Thr745Arg	Missense	Exon 18	1	2

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c.2234C>G, p.Thr745Arg

The sequence variant c.2234C>G in exon 18 changes threnonine in position 745 to arginine (p.Thr745Arg). Studies in transfected cells show that p.Arg745 is inactive, but processed and localized to the lysosomes. p.Thr745 is located in the interior of the enzyme, and 3d-modelling indicates that p.Thr745Arg may interfere with the folding process.