The UMD-DMD France mutations database
Record ID: 1091

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.372delG	p.Met124IlefsX18	Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
ATG	Met	del1c	Fs.	Stop at 141	Fr.

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

Mutation impact

At the mRNA level	On restriction map
r.372delg	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
---033-0-1	Proband	Male	Unknown

Phenotypic group

DMD

Associated pictures

DYS I

DYS II

Myosin

Reference

Reference ID	PubMed ID	Reference
10	17041906	Deburgrave N, Daoud F, Llense S, Barbot JC, R*can D, Peccate C, Burghes AH, B*roud C, Garcia L, Kaplan JC, Chelly J, Leturcq F. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat. 2007 Feb;28(2):183-95.