Mutations

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ToggleEditMutation = 'c.293dupA'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	293	c.293dupA	p.Tyr99Valfs*62	Duplication	Exon 3	1	2

1 - 1 of 1

c.293dupA, p.Tyr99Valfs*62

The sequence variant c.293dupA in exon 3 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Tyr99ValfsX62).

Mutation Details

Mutation type

Duplication

Localization

Exon 3

Number of Patients

Detected

References

Sbaragli et al. 2005

Riise Stensland et al. 2012

Patients w/ c.293dupA / p.Tyr99Valfs*62

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
3	***	Italy	***	Type 2	c.293dupA	p.Tyr99Valfs*62	c.293dupA	p.Tyr99Valfs*62		***

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Primary Mutation Type Distribution