The UMD-DMD France mutations database
3 small rearrangements at position 531

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu531X	c.1591G>T	13	531	CRD-repeat #2		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8874 ---MD_DE#98619940-F267-465 M DE 0 8916 ---MD_DE#A2E6C6CF-A05C-4B4 M DE 0
p.Glu531AspfsX52	c.1593delA	13	531	CRD-repeat #2		Small rearrangement	Fr.	Stop at 582	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7575 ---MD_CN_HOSP#235 M CN 0