Mutations

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ToggleEditProtein contains 'p.Glu863*'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2587	c.2587G>T	p.Glu863*	Nonsense	Exon 21	1	1

1 - 1 of 1

c.2587G>T, p.Glu863*

The sequence variant c.2587G>T in exon 21 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Glu863X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 21

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2587G>T / p.Glu863*

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
123	***	New Zealand	***	Type 2	c.1388_1389delGC	p.Arg463Profs*53	c.2587G>T	p.Glu863*		***

1-1

Primary Mutation Type Distribution