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.Pro248Leu'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	743	c.743C>T	p.Pro248Leu	Benign	Exon 5

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c.743C>T, p.Pro248Leu

The sequence variant c.743C>T (dbSNP rs117843968) in exon 5 changes proline in amino acid position 248 to leucine (p.Pro248Leu). It has a minor allele frequency of 0.04 in one control population, and is considered a common, benign SNP. Amino acid residue 248 is located on the surface of the MAN2B1 protein, and studies in transfected cells show that p.Leu248 is active and processed correctly.