Mutations

Reset Report

Report Settings

ToggleEditMutation = 'c.418C>T'
ToggleEditBenign Mutations
ToggleEditAnimal Model

Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	418	c.418C>T	p.Arg140*	Nonsense	Exon 3	3	4

1 - 1 of 1

c.418C>T, p.Arg140*

The sequence variant c.418C>T in exon 3 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Arg140X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 3

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.418C>T / p.Arg140*

1-3

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
32	***	Netherlands	***		c.222C>A	p.Asp74Glu	c.418C>T	p.Arg140*		***
72	***	New Zealand	***	Type 2	c.418C>T	p.Arg140*	c.2248C>T	p.Arg750Trp	Yes	***
224	***	Germany	***	Type 2	c.418C>T	p.Arg140*	c.418C>T	p.Arg140*		***

1-3

Primary Mutation Type Distribution