Mutations

Reset Report

Report Settings

ToggleEditMutation = 'c.1390C>T'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1390	c.1390C>T	p.Gln464*	Nonsense	Exon 11	1	1

1 - 1 of 1

c.1390C>T, p.Gln464*

The sequence variant c.1390C>T in exon 11 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Gln464X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 11

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1390C>T / p.Gln464*

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
51	***	France	***	Type 2	c.598C>A	p.His200Asn	c.1390C>T	p.Gln464*	Yes	***

1-1

Primary Mutation Type Distribution