Mutations

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ToggleEditProtein contains 'p.Trp908*'

Protein

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2724	c.2724G>A	p.Trp908*	Nonsense	Exon 22	2	3

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c.2724G>A, p.Trp908*

The sequence variant c.2724G>A in exon 22 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Trp908X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 22

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2724G>A / p.Trp908*

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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
84	***	United Kingdom	***		c.590C>G	p.Pro197Arg	c.2724G>A	p.Trp908*		***
161	***	Spain	***	Type 2	c.2724G>A	p.Trp908*	c.2724G>A	p.Trp908*	Yes	***

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Primary Mutation Type Distribution