Mutations

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ToggleEditMutation = 'c.709C>T'

Mutation

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	709	c.709C>T	p.Gln237*	Nonsense	Exon 5	2	2

1 - 1 of 1

c.709C>T, p.Gln237*

The sequence variant c.709C>T in exon 5 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Gln237X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 5

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.709C>T / p.Gln237*

1-2

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	***

1-2

Primary Mutation Type Distribution