The UMD-DMD France mutations database
Record ID: 735

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.7543_7660del	p.Ala2515LeufsX22	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
GCA	Ala	del118a	Fs.	Stop at 2536	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
CRD-repeat #20

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
Irregular Medium	Normal	Irregular Medium

Western Blot
dys 1	dys 2	dys 3
Normal size, normal quantity	Normal size, normal quantity

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
---607-0-2	Proband	Female	Familial			FRANCE

Phenotypic group

Symptomatic carrier

Associated pictures

Comments

DMD carrier, 2 sons affected and died (not analysed)

Reference

Reference ID	Reference
1	Unpublished data