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ToggleEditProtein contains 'p.Arg188*'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	562	c.562C>T	p.Arg188*	Nonsense	Exon 4

1 - 1 of 1

c.562C>T, p.Arg188*

The sequence variant c.562C>T in exon 4 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Arg188*).

Mutation Details

Mutation type

Nonsense

Localization

Exon 4

Number of Patients

References

Sbaragli et al. 2005

Primary Mutation Type Distribution