The UMD-DMD France mutations database
Missense mutations (20 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asp46Val	c.137A>T	3	46	Actin binding domain		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3143 ---475-0-1 Male Hemizygous FRANCE BMD 1 3171 ---475-1-1 Male Hemizygous FRANCE BMD 1
p.Val218Gly	c.653T>G	8	218	Actin binding domain		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3583 ---999-0-1 Male Hemizygous FRANCE BMD 1
p.Gln277His	c.831G>T	8	277	CRD-hinge region #1		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2512 ---523-I-71 Male Hemizygous FRANCE BMD 121 2513 ---523-R-91 Male Hemizygous FRANCE BMD 121
p.Asp451Tyr	c.1351G>T	12	451	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3573 ---027-0-1 Male Hemizygous FRANCE BMD 1
p.Phe590Arg	c.[1768T>C; 1769T>G]	15	590	CRD-repeat #3		Small rearrangement	Ts/Tv	T->C/T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3516 ---981-0-1 Male Hemizygous FRANCE DMD 1
p.Asn793Ser	c.2378A>G	19	793	CRD-repeat #4		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3494 ---315-0-1 Male Hemizygous FRANCE DMD 1
	c.2955_2972delinsTT	23	985	CRD-repeat #6		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2715 ---188-0-m1 Male Hemizygous FRANCE DMD 114
	c.4780_4780delinsGAGATCATATCTGTCATATGATCATATCTTTGTCATA	34	1594	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2704 ---143-8-41 Male Hemizygous FRANCE DMD 106
p.Glu1601X	c.4800_4801delinsGT	34	1600	CRD-repeat #12		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2714 ---151-2-m1 Male Hemizygous FRANCE DMD 114
p.Glu2890Lys	c.8668G>A	58-59	2890	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3568 ---100-4-11 Male Hemizygous FRANCE DMD 1
	c.9316_9318delinsA	64	3106	CRD-hinge region #4		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2767 ---522-5-41 Male Hemizygous FRANCE DMD 106
p.Cys3319Arg	c.9955T>C	68	3319	Carboxy-terminal region		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2376 ---235-8-m1 Male Hemizygous FRANCE Pending 114 3453 ---364-0-1 Male Hemizygous FRANCE DMD 1
p.Phe3332Cys	c.9995T>G	69	3332	Carboxy-terminal region		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2604 ---264-6-01 Male Hemizygous FRANCE DMD 106 2605 ---264-6-01 Male Hemizygous FRANCE DMD 106
p.Asp3335Tyr	c.10003G>T	69	3335	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1672 ---268-8-61 Male Hemizygous FRANCE DMD 106
p.Cys3340Arg	c.10018T>C	69	3340	Carboxy-terminal region		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1607 ---264-6-01 Male Hemizygous FRANCE DMD 106
p.Asp3368His	c.10102G>C	70	3368	Carboxy-terminal region		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 658 ---462-0-1 Male Hemizygous - BMD 10