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.1076dupA, p.Tyr359*

The sequence variant c.1076dupA 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

Duplication

Localization

Exon 8

Number of Patients

Detected

References

Berg et al. 1999

Patients w/ c.1076dupA / p.Tyr359*

1-1

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
44	***	Netherlands	***	Type 2	c.1076dupA	p.Tyr359*	c.1076dupA	p.Tyr359*	Yes	***

1-1

Primary Mutation Type Distribution