Mutations

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ToggleEditMutation = 'c.2251G>T'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2251	c.2251G>T	p.Glu751*	Nonsense	Exon 18	1	1

1 - 1 of 1

c.2251G>T, p.Glu751*

The sequence variant c.2251G>T in exon 18 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Glu751X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 18

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2251G>T / p.Glu751*

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
55	***	Poland	***	Type 2	c.2251G>T	p.Glu751*	c.2248C>T	p.Arg750Trp	Yes	***

1-1

Primary Mutation Type Distribution