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
	2165	c.2165+1G>A	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	Splice	Intron 17	2	4

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c.2165+1G>A, p.Thr683Argfs*12; p.Trp714Cys_Ser715Gly722del8

The sequence variant c.2165+1G>A is located in the donor splice site of intron 17 and interferes with the splicing process. In fibroblasts, the variant causes alternative splicing where either exon 17 is deleted from the transcript (r.2047_2165del119), or where the last 24 nucleotides of exon 17 are deleted (r.2142_2165del24). Both events result in truncated, non-functional proteins (p.Thr683ArgfsX12; p.Trp714Cys_Ser715Gly722del8).

Mutation Details

Mutation type

Splice

Localization

Intron 17

Number of Patients

Detected

References

Berg et al. 1999

Patients w/ c.2165+1G>A / p.Thr683Argfs*12; p.Trp714Cys_Ser715Gly722del8

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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
30	***	Reunion	***		c.2165+1G>A	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8	c.2165+1G>A	p.Thr683Argfs*12 p.Trp714Cys_Ser715Gly722del8		***

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Primary Mutation Type Distribution