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.Phe510Valfs*15'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1527	c.1527+2T>A	p.Val474_Arg509del36 p.Phe510Valfs*15	Splice	Intron 12	1	1

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c.1527+2T>A, p.Val474_Arg509del36; p.Phe510Valfs*15

The sequence variant c.1527+2T>A is located in the donor splice site of intron 12 and interferes with the splicing process. In fibroblasts, the variant causes alternative splicing where either exon 12 is deleted from the transcript (r.1420_1527del108), or where intron 12 is included in the transcript (r.1527_1528ins261). Both events result in truncated, non-functional proteins (p.Val474_Arg509del36; p.Phe510ValfsX15).

Mutation Details

Mutation type

Splice

Localization

Intron 12

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1527+2T>A / p.Val474_Arg509del36; p.Phe510Valfs*15

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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
64	***	Greece	***	Type 3	c.1527+2T>A	p.Val474_Arg509del36 p.Phe510Valfs*15	c.2515C>T	p.Arg839*		***

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Primary Mutation Type Distribution