The UMD-DMD France mutations database
Record ID: 728

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.3940C>T	p.Arg1314X	Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGA	Arg	TGA	Stop	C->T	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
CRD-repeat #9		No	Yes

Mutation impact

At the mRNA level	On restriction map
r.3940c>u	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
No signal	Reduced size, medium quantity

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
---357-0-1	Proband	Male	Familial	6		FRANCE

Phenotypic group

BMD

Associated pictures

Reference

Reference ID	Reference
1	Unpublished data