The UMD-DMD France mutations database
Record ID: 658

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.10102G>C	p.Asp3368His	Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
GAT	Asp	CAT	His	G->C	Tv

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

Mutation impact

At the mRNA level	On restriction map
r.10102g>c	New restriction site(s): Afl III, Nla III, Nsp I, Nsp7524 I, NspC I Lost restriction site(s): none

Pathogenicity (bioinformatics predictions)
Conservation (0-1)	SIFT (0-1)	UMD predictor (0-100)
0	-	59 (Probable polymorphism)

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
---462-0-1	Proband	Male	Familial	7

Phenotypic group

BMD

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.