Mutations

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ToggleEditMutation = 'c.1109G>A'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1109	c.1109G>A	p.Trp370*	Nonsense	Exon 8	2	4

1 - 1 of 1

c.1109G>A, p.Trp370*

The sequence variant c.1109G>A in exon 8 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Trp370X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 8

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.1109G>A / p.Trp370*

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
107	***	United States	***	Type 2	c.1109G>A	p.Trp370*	c.1109G>A	p.Trp370*	Yes	***
215	***	United States	***		c.1109G>A	p.Trp370*	c.1109G>A	p.Trp370*	Yes	***

1-2

Primary Mutation Type Distribution