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
	844	c.844C>T	p.Pro282Ser	Benign	Exon 6

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c.844C>T, p.Pro282Ser

The sequence variant c.844C>T (dbSNP rs45576136) in exon 6 changes proline in amino acid position 282 to serine (p.Pro282Ser). It has not been detected among controls, and in the patient it is on the same allele (in cis) as the splice site mutation c.1527+1T>G in intron 12. Amino acid residue 282 is located on the surface of the MAN2B1 protein, and studies in transfected cells show that p.Ser282 is active and processed correctly. It is considered a rare, benign variant in linkage disequilibrium with a more severe variant.