The UMD-TREAT_DMD mutations database
Val to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Val123AsnfsX14	c.367_368delGT	6	123	Actin binding domain		Small rearrangement	Fr.	Stop at 136	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 478 TNMD_CA_DM#32 M CA 0
p.Val187PhefsX21	c.559delG	7	187	Actin binding domain		Small rearrangement	Fr.	Stop at 207	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8758 TNMD_DE#86C9F000-8640-422 M DE 0
p.Val696X	c.2086delG	17	696	CRD-hinge region #2		Small rearrangement	Fr.	Stop at 696	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9918 TNMD_HK#57 M HK 0
p.Val921SerfsX28	c.2761delG	21	921	CRD-repeat #5		Small rearrangement	Fr.	Stop at 948	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2972 TNMD_FR#F758745011 M FR 0
p.Val1160LysfsX17	c.3478_3479delGT	26	1160	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1176	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3104 TNMD_FR#F3415209331 M FR 0
p.Lys1482ArgfsX16	c.4443delG	32	1481	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1497	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7715 TNMD_CN_HOSP#163 M CN 0
p.Val1493GlyfsX17	c.4477_4478delGT	32	1493	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1509	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16623 TNMD-US#1567 M US 0
p.Val1506GlufsX4	c.4517_4518delTG	32	1506	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1509	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15219 TNMD_UK#91 M UK 0
p.Lys1516X	c.4545_4549delGAAGT	33	1515	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1516	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18798 TNMD_NZ#301 M NZ 0 16535 TNMD-US#1353 M US 0 12610 TNMD_JP#20110906-02 M JP 0 12524 TNMD_JP#20110602-02 M JP 0
p.Val1559X	c.4675delG	34	1559	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1559	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3260 TNMD_FR#F759150011 M FR 0
p.Val1805X	c.5413delG	38	1805	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3356 TNMD_FR#F690520AZ61 M FR 0
p.Val2869ThrfsX25	c.8605_8606delGT	58	2869	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2893	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6592 TNMD_FR#F69167669m1 M FR 0