The UMD-DMD France mutations database
Record ID: 450

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.1483_4071del	p.Val495_Glu1357del	Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
GTG	Val	del2589a	InF	In frame del	InF

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
CRD-repeat #2

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
No signal	Irregular High	Irregular High

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
---186-0-1	Proband	Male	Familial	14		FRANCE

Phenotypic group

BMD

Associated pictures

DYS I

DYS II

Myosin

Comments

This patient had only myalgia at exertion with elevated CPK.

Reference

Reference ID	PubMed ID	Reference
7	9447607	Romero NB, Recan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC. A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci. Neuromuscul Disord. 1997 Dec;7(8):499-504.