Mutations

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ToggleEditMutation = 'c.478G>A'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	478	c.478G>A	p.Trp193*	Nonsense	Exon 4	1	1

1 - 1 of 1

c.478G>A, p.Trp193*

The sequence variant c.478G>A in exon 4 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Trp193X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 4

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.478G>A / p.Trp193*

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
78	***	Gabon	***	Type 2	c.478G>A	p.Trp193*	c.2671G>A	p.Gly891Arg	Yes	***

1-1

Primary Mutation Type Distribution