The UMD-DMD France mutations database
8 small rearrangements at position 761

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu761X	c.2281G>T	18	761	CRD-repeat #4		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2852 ---MD_FR#F3408305471 M FR 0 18394 ---MD_CZ_SK#MDB-4512 M CZ 0
p.Glu761LysfsX5	c.2281_2284delGAAA	18	761	CRD-repeat #4		Small rearrangement	Fr.	Stop at 765	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2854 ---MD_FR#F751034011 M FR 0
p.Glu761SerfsX10	c.2281_2285delGAAAA	18	761	CRD-repeat #4		Small rearrangement	Fr.	Stop at 770	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8778 ---MD_DE#89F22144-4C1C-49B M DE 0 722 ---MD_CA_DM#182 M CA 0 526 ---MD_CA_DM#60 M CA 0 2856 ---MD_FR#F757273011 M FR 0 15943 ---MD-US#330 M US 0