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
	2402	c.2402dupG	p.Ser802Glnfs*129	Duplication	Exon 20	5	7

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c.2402dupG, p.Ser802Glnfs*129

The sequence variant c.2402dupG in exon 20 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Ser802GlnfsX129).

Mutation Details

Mutation type

Duplication

Localization

Exon 20

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2402dupG / p.Ser802Glnfs*129

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PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
80	***		***	Type 2-3?	c.2402dupG	p.Ser802Glnfs*129	c.2402dupG	p.Ser802Glnfs*129		***
94	***	Lithuania	***	Type 2	c.561delG	p.Arg188Aspfs*58	c.2402dupG	p.Ser802Glnfs*129	Yes	***
176	***	United Kingdom	***	Type 2	c.1383C>A	p.Tyr461*	c.2402dupG	p.Ser802Glnfs*129	Yes	***
177	***	United Kingdom	***	Type 2	c.1383C>A	p.Tyr461*	c.2402dupG	p.Ser802Glnfs*129	Yes	***
220	***	Kuwait	***	Type 3	c.2402dupG	p.Ser802Glnfs*129	c.2402dupG	p.Ser802Glnfs*129		***

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Primary Mutation Type Distribution