The UMD-DMD France mutations database
Record ID: 66

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.2169_6438del	p.Leu724AsnfsX16	Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AGG	Arg	del4270c	Fs.	Stop at 739	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
CRD-repeat #4

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
---131-0-1	Proband	Male	Familial	7

Phenotypic group

DMD

Associated pictures

DYS I

DYS II

Myosin

Comments

This patient have been published as patient Patient 35 by moizard et al. Am J Med Genet. 1998 Oct 30;80(1):32-41.

Reference

Reference ID	PubMed ID	Reference
119	9800909	Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet. 1998, 80(1):32-41.