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.His814_Arg815dup'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2439	c.2439_2444dup6	p.His814_Arg815dup	Duplication	Exon 21	1	1

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c.2439_2444dup6, p.His814_Arg815dup

The sequence variant c.2439_2444dup6 in exon 21 inserts two amino acids after arginine in position 815 (p.His814_Arg815dup). Studies in transfected cells show that p.His814_Arg815dup is inactive and retained in the ER. A portion of p.His814_Arg815dup is processed but since it is not detected in the culture medium, the variant might be expressed at a lower level and/or be folded inefficiently.