Mutations

Reset Report

Report Settings

ToggleEditProtein contains 'p.Val474_Arg509del36'

Protein

1 - 3 of 3

PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
1420	c.1420-3del25	p.Val474_Arg509del36 p.Val474_Gln495del22	Splice	Intron 11	1	1
1527	c.1527+2T>A	p.Val474_Arg509del36 p.Phe510Valfs*15	Splice	Intron 12	1	1
1527	c.1527+2T>G	p.Val474_Arg509del36	Splice	Intron 12	3	6

1 - 3 of 3

c.1527+2T>G, p.Val474_Arg509del36

The sequence variant c.1527+2T>G is located in the donor splice site of intron 12 and interferes with the splicing process. In fibroblasts, the variant causes deletion of exon 12 from the transcript (r.1420_1527del108), resulting in a truncated, non-functional protein (p.Val474_Arg509del36).

Mutation Details

Mutation type

Splice

Localization

Intron 12

Number of Patients

Detected

References

Berg et al. 1999

Riise Stensland et al. 2012

Patients w/ c.1527+2T>G / p.Val474_Arg509del36

1-3

PID	Gender	COB	Year of birth	Clinical subtype	Allele 1 CDNA	Allele 1 Protein	Allele 2 CDNA	Allele 2 Protein	Clinic	Affsibs
35	***	Italy	***	Type 2	c.1527+2T>G	p.Val474_Arg509del36	c.1527+2T>G	p.Val474_Arg509del36	Yes	***
36	***	Italy	***	Type 2	c.1527+2T>G	p.Val474_Arg509del36	c.1527+2T>G	p.Val474_Arg509del36	Yes	***
116	***	Italy	***	Type 2	c.1527+2T>G	p.Val474_Arg509del36	c.1527+2T>G	p.Val474_Arg509del36	Yes	***

1-3

Primary Mutation Type Distribution