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.His814Leufs*41'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2437	c.2437-2A>G	p.His814Leufs*41	Splice	Intron 20	1	2

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c.2437-2A>G, p.His814Leufs*41

The sequence variant c.2437-2A>Gis located in the acceptor splice site of intron 20 and interferes with the splicing process by causing deletion of exon 21 (r.2437_2664del228). This is predicted to result in a truncated, non-functional protein (p.His814LeufsX41).

Mutation Details

Mutation type

Splice

Localization

Intron 20

Number of Patients

Detected

References

Beccari et al. 2003

Riise Stensland et al. 2012

Patients w/ c.2437-2A>G / p.His814Leufs*41

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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
128	***	Palestine	***	Type 2	c.2437-2A>G	p.His814Leufs*41	c.2437-2A>G	p.His814Leufs*41	Yes	***

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Primary Mutation Type Distribution