Mutations

Reset Report

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	422	c.422delA	p.Asp141Alafs*16	Deletion	Exon 3	3	3

c.422delA, p.Asp141Alafs*16

The sequence variant changes the reading frame, and is, if expressed, expected to result in a truncated, non-functional protein (p.Asp141AlafsX16).

Mutation type

Deletion

Localization

Exon 3

Number of Patients

Detected

1-3

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
48	***	France	***	Type 2	c.422delA	p.Asp141Alafs*16	c.2248C>T	p.Arg750Trp	Yes	***
49	***	France	***	Type 2	c.422delA	p.Asp141Alafs*16	c.2248C>T	p.Arg750Trp	Yes	***
50	***	France	***	Type 2	c.422delA	p.Asp141Alafs*16	c.2248C>T	p.Arg750Trp	Yes	***

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