The UMD-DMD France mutations database
Record ID: 1000

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.10910C>A	p.Ser3637X	Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TCG	Ser	TAG	Stop	C->A	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
Carboxy-terminal region		Yes, coding strand	No

Mutation impact

At the mRNA level	On restriction map
r.10910c>a	New restriction site(s): Dde I 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 Low	No signal	Irregular Low

Western Blot
dys 1	dys 2	dys 3
Reduced size, medium quantity	No signal

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
---665-0-1	Proband	Male	Unknown	0		FRANCE

Phenotypic group

DMD

Associated pictures

Comments

+ Mental retardation. At the skeletal muscle level, this patient had delayed motor acquisiton with elevated CPK level and dystrophic pattern on muscle biopsy.

Reference

Reference ID	Reference
1	Unpublished data