The UMD-DMD France mutations database
Record ID: 4

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.94_2169dup	p.Arg723SerfsX21	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TTT	Phe	ins2075a	Fs.	Stop at 743	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
Actin binding domain

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
---406-0-2	Proband	Female	De novo

Phenotypic group

Symptomatic carrier

Associated pictures

DYS I

DYS II

Myosin

Comments

DMD carrier - Symptomatic

Reference

Reference ID	PubMed ID	Reference
8	11404124	Romero NB, De Lonlay P, Llense S, Leturcq F, Touati G, Urtizberea JA, Saudubray JM, Munnich A, Kaplan JC, R*can D. Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene. Neuromuscul Disord. 2001 Jul;11(5):494-8.