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
	1309	c.1309+1G>T	p.Val411Metfs*40	Splice	Intron 10	1	1

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c.1309+1G>T, p.Val411Metfs*40

The sequence variant c.1309+1G>T is located in the donor splice site of intron 10 interferes with the splicing process. In peripheral blood cells the variant causes deletion of exon 10 from the transcript (r.1231_1309del79). This is predicted to result in a truncated, non-functional protein (p.Val411MetfsX40).

Mutation Details

Mutation type

Splice

Localization

Intron 10

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1309+1G>T / p.Val411Metfs*40

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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
126	***	United States	***	Type 2	c.912_913insAGGC	p.Tyr306Profs*19	c.1309+1G>T	p.Val411Metfs*40	Yes	***

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Primary Mutation Type Distribution