Mutations

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ToggleEditMutation = 'c.2355G>A'

Mutation

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	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	2355	c.2355G>A	p.Arg757Metfs*6	Splice	Exon 19	5	6

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c.2355G>A, p.Arg757Metfs*6

The sequence variant c.2355G>A affects the last nucleotide of exon 19 and interferes with the splicing process. In peripheral blood cells the variant causes deletion of exon 19 from the transcript (r.2268_2355del88). This is predicted to result in a truncated, non-functional protein (p.Arg757MetfsX6).

Mutation Details

Mutation type

Splice

Localization

Exon 19

Number of Patients

Detected

References

Riise Stensland et al. 2012

Patients w/ c.2355G>A / p.Arg757Metfs*6

1-5

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
54	***	Poland	***	Type 2	c.2248C>T	p.Arg750Trp	c.2355G>A	p.Arg757Metfs*6	Yes	***
58	***	Poland	***	Type 2	c.2248C>T	p.Arg750Trp	c.2355G>A	p.Arg757Metfs*6	Yes	***
59	***	Poland	***	Type 2	c.2248C>T	p.Arg750Trp	c.2355G>A	p.Arg757Metfs*6	Yes	***
60	***	Poland	***	Type 2	c.2355G>A	p.Arg757Metfs*6	c.2355G>A	p.Arg757Metfs*6	Yes	***
165	***	Turkey	***	Type 2	c.788C>T	p.Pro263Leu	c.2355G>A	p.Arg757Metfs*6	Yes	***

1-5

Primary Mutation Type Distribution