The UMD-DMD France mutations database
Record ID: 342

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.7310_7872del	p.Pro2438ValfsX17	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TCT	Ser	del563b	Fs.	Stop at 2454	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
CRD-hinge region #3

Mutation impact

At the mRNA level	On restriction map
	New restriction site(s): none Lost restriction site(s): none

On isoforms (a blue cell indicates that the corresponding isoform is affected by the mutation)
Dp 427c	Dp 427m	Dp 427p	Dp 260	Dp 140	Dp 116	Dp 71

Immunofluorescence
dys 1	dys 2	dys 3

Western Blot
dys 1	dys 2	dys 3

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
---122-0-2	Proband	Female	Familial

Phenotypic group

Symptomatic carrier

Associated pictures

DYS I

DYS II

figure 1

figure 2

Comments

DMD carrier - symptomatic

Reference

Reference ID	PubMed ID	Reference
5	8168835	Tihy F, Vogt N, Recan D, Malfoy B, Leturcq F, Coquet M, Serville F, Fontan D, Guillard JM, Kaplan JC, et al."Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter."Hum Genet. 1994 May;93(5):563-7.