Mutations

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ToggleEditProtein contains 'p.Glu53*'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	157	c.157G>T	p.Glu53*	Nonsense	Exon 1

1 - 1 of 1

c.157G>T, p.Glu53*

The sequence variant c.157G>T in exon 1 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Glu53*).

Mutation Details

Mutation type

Nonsense

Localization

Exon 1

Number of Patients

References

Sbaragli et al. 2005

Primary Mutation Type Distribution