The UMD-DMD France mutations database
9 small rearrangements at position 3485

    Request ID: DMD

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu3485ProfsX6	c.10453dup	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3490	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14131 ---MD_PT#16 M PT 0 12336 ---MD_JP#20110112-01 M JP 0
p.Leu3485GlufsX5	c.10453_10454delCT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3489	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18491 ---MD_AU#61 M AU 0 7014 ---MD_FR#F750851011 M FR 0
p.Leu3485ArgfsX11	c.10454delT	74	3485	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3495	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7012 ---MD_FR#F759615011 M FR 0 17135 ---MD-US#2566 M US 0 16073 ---MD-US#546 M US 0 13026 ---MD_JP#20121206-01 M JP 0
p.Ser3486GlufsX5	c.10454dup	74	3485	Carboxy-terminal region		Small rearrangement		Stop at 3490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7016 ---MD_FR#F759912011 M FR 0