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 'Not expressed'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1310	c.1310-2A>G	Not expressed	Splice	Intron 10	1	1

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c.1310-2A>G, Not expressed

The sequence variant c.1310-2A>G is located in the acceptor splice site of intron 10 and is predicted to interfere with the splicing process. In peripheral blood cells this allele was not detected, indicating that eventual misspliced transcripts may have been degraded probably due to the process of NMD (nonsense-mediated mRNA decay).

Mutation Details

Mutation type

Splice

Localization

Intron 10

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1310-2A>G / Not expressed

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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
169	***	Germany	***	Type 2	c.1310-2A>G	Not expressed	c.2248C>T	p.Arg750Trp		***

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Primary Mutation Type Distribution