Mutations

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ToggleEditProtein contains 'p.Arg188Aspfs*58'

Protein

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	561	c.561delG	p.Arg188Aspfs*58	Deletion	Exon 4	2	2

1 - 1 of 1

c.561delG, p.Arg188Aspfs*58

The sequence variant c.561delG in exon 4 changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Arg188AspfsX58).

Mutation Details

Mutation type

Deletion

Localization

Exon 4

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.561delG / p.Arg188Aspfs*58

1-2

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
94	***	Lithuania	***	Type 2	c.561delG	p.Arg188Aspfs*58	c.2402dupG	p.Ser802Glnfs*129	Yes	***
111	***	Germany	***	Type 2	c.561delG	p.Arg188Aspfs*58	c.2248C>T	p.Arg750Trp	Yes	***

1-2

Primary Mutation Type Distribution