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ToggleEditProtein contains 'p.Trp128*'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	383	c.383G>A	p.Trp128*	Nonsense	Exon 3

1 - 1 of 1

c.383G>A, p.Trp128*

The sequence variant c.383G>A in exon 3 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.(Trp128*)).

Mutation Details

Mutation type

Nonsense

Localization

Exon 3

Number of Patients

References

Borgwardt et al. 2015

Primary Mutation Type Distribution