The UMD-DMD France mutations database
Record ID: 692

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.IVS9-5831C>T (c.961-5831C>T)		Hemizygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CAT	His	spl-5831	Spl.	C->T	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG

Mutation impact

At the mRNA level	On restriction map
r.[=, 960_961ins961-5922_961-5833]	New restriction site(s): none Lost restriction site(s): none

Impact on splicing
Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Cryptic Donor?	TTGgcaagt	66.4 _	TTGgtaagt	93.3 _ *	28.8 %

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
	Irregular Low	Irregular Low

Western Blot
dys 1	dys 2	dys 3
Normal size, low quantity	Normal size, low quantity

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
---010-0-1	Proband	Male	Familial			FRANCE

Phenotypic group

BMD

Associated pictures

DYS I

DYS II

Myosin

Comments

+ Cardiomyopathy. Case 2 / patient FR of the report. This patient have been also republished by Deburgrave et al. Hum Mutat. 2007 Feb;28(2):183-95.

Reference

Reference ID	PubMed ID	Reference
4	14659407	Beroud C, Carrie A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carre-Pigeon F, Mayer M, Bellance R, Recan D, Chelly J, Kaplan JC, Leturcq F."Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene."Neuromuscul Disord. 2004 Jan;14(1):10-8.