Mutations

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ToggleEditProtein contains 'p.Gln386ProfxS53'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1156	c.1156dupC	p.Gln386ProfxS53	Duplication	Exon 9	2	2

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c.1156dupC, p.Gln386ProfxS53

The sequence variant c.1156dupC in exon 9 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Gln386ProfxS53).

Mutation Details

Mutation type

Duplication

Localization

Exon 9

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1156dupC / p.Gln386ProfxS53

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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
83	***	United Kingdom	***	Type 1	c.709C>T	p.Gln237*	c.1156dupC	p.Gln386ProfxS53	Yes	***
141	***	United Kingdom	***	Type 2	c.709C>T	p.Gln237*	c.1156dupC	p.Gln386ProfxS53	Yes	***

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Primary Mutation Type Distribution