Mutations

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ToggleEditProtein contains 'p.Tyr359*'

Protein

1 - 2 of 2

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	1076	c.1076dupA	p.Tyr359*	Duplication	Exon 8	1	2
	1077	c.1077C>A	p.Tyr359*	Nonsense	Exon 8	2	2

1 - 2 of 2

c.1077C>A, p.Tyr359*

The sequence variant c.1077C>A in exon 8 introduces a premature stop codon, and is, if expressed, expected to result in a truncated, non-functional protein (p.Tyr359X).

Mutation Details

Mutation type

Nonsense

Localization

Exon 8

Number of Patients

Detected

References

Berg et al. 1999

Patients w/ c.1077C>A / p.Tyr359*

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
12	***	Germany	***	Type 2	c.1077C>A	p.Tyr359*	c.1420-3del25	p.Val474_Arg509del36 p.Val474_Gln495del22		***
26	***	Germany	***	Type 2	c.1026+2T>G	p.Gln339_Val342del4	c.1077C>A	p.Tyr359*	Yes	***

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Primary Mutation Type Distribution