Mutations

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ToggleEditMutation = 'c.2669C>G'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2669	c.2669C>G	p.Ser890*	Nonsense	Exon 22	2	2

1 - 1 of 1

c.2669C>G, p.Ser890*

The sequence variant c.2669C>G in exon 22 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Ser890X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 22

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2669C>G / p.Ser890*

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
31	***	Netherlands	***	Type 2	c.2248C>T	p.Arg750Trp	c.2669C>G	p.Ser890*	Yes	***
66	***	Netherlands	***	Type 2	c.1026+2T>G	p.Gln339_Val342del4	c.2669C>G	p.Ser890*		***

1-2

Primary Mutation Type Distribution