The UMD-TREAT_DMD mutations database
Glu to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Val7X	c.17delA	1	6	Dp427m unique N-Ter		Small rearrangement	Fr.	Stop at 7	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12736 TNMD_JP#20120125-01 M JP 0
p.Glu323LysfsX12	c.967delG	10	323	CRD-hinge region #1		Small rearrangement	Fr.	Stop at 334	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8066 TNMD_DE#097D64FC-7865-4FB M DE 0
p.Glu338LysfsX2	c.1012delG	10	338	CRD-repeat #1		Small rearrangement	Fr.	Stop at 339	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9152 TNMD_DE#CE70E370-489A-4EF M DE 0 8972 TNMD_DE#A9023CBF-5C80-40A M DE 0 8314 TNMD_DE#37CDF0F5-4885-483 M DE 0
p.Glu359GlyfsX17	c.1076delA	10	359	CRD-repeat #1		Small rearrangement	Fr.	Stop at 375	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7363 TNMD_CN_HOSP#341 M CN 0
p.Glu373ThrfsX10	c.1117_1129del	10	373	CRD-repeat #1		Small rearrangement	Fr.	Stop at 382	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2504 TNMD_FR#F3445622751 M FR 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 TNMD_CN_HOSP#235 M CN 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 TNMD_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 TNMD_DE#89F22144-4C1C-49B M DE 0 722 TNMD_CA_DM#182 M CA 0 526 TNMD_CA_DM#60 M CA 0 2856 TNMD_FR#F757273011 M FR 0 15943 TNMD-US#330 M US 0
p.Glu1182GlyfsX19	c.3545delA	26	1182	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1200	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15187 TNMD_UK#75 M UK 0
p.Glu1239AsnfsX5	c.3715delG	27	1239	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1243	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8300 TNMD_DE#35B3D910-5FE5-4C1 M DE 0
p.Glu1376TyrfsX3	c.4126_4135del	30	1376	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1378	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3214 TNMD_FR#F3413915501 M FR 0
p.Glu1633GlyfsX19	c.4898_4899delAG	35	1633	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1651	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3296 TNMD_FR#F3421512401 M FR 0 15229 TNMD_UK#96 M UK 0
p.Glu1636ArgfsX2	c.4906_4949del	35	1636	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1637	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8446 TNMD_DE#51693DBD-2DC5-4FD M DE 0
p.Lys1708GlufsX10	c.5118_5119delGA	36	1706	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1717	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 440 TNMD_CA_DM#8 M CA 0
p.Glu1714LysfsX7	c.5140delG	36	1714	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3324 TNMD_FR#F6911617MA1 M FR 0
p.Glu1714ArgfsX4	c.5140_5141delGA	36	1714	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1717	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16439 TNMD-US#1165 M US 0
p.Glu1795AspfsX10	c.5385_5388delACCA	38	1795	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1804	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8322 TNMD_DE#39CACB1D-2953-4EE M DE 0
p.Glu1924GlyfsX7	c.5771_5772delAG	41	1924	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1930	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15858 TNMD_FI#FIN35 M FI 0
p.Glu1934CysfsX47	c.5800_5806del	41	1934	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1980	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9846 TNMD_HK#13 M HK 0
p.Lys2329SerfsX9	c.6980delA	48	2327	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2337	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12868 TNMD_JP#20120618-01 M JP 0
p.Val2564TyrfsX12	c.7689delA	53	2563	CRD-repeat #20		Small rearrangement	Fr.	Stop at 2575	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18451 TNMD_AU#209 M AU 0
p.Glu2590LysfsX6	c.7768_7771delGAAG	53	2590	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2595	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6476 TNMD_FR#F751398011 M FR 0
p.Glu2686LysfsX40	c.8055delA	55	2685	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6532 TNMD_FR#F751375011 M FR 0
p.Glu3090AlafsX7	c.9269_9270delAG	63	3090	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3096	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8472 TNMD_DE#57649A0E-EAE6-431 M DE 0
p.Glu3288AsnfsX42	c.9862delG	68	3288	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 109 TREAT_NMD_AR#AHGD61 M AR 0
p.Glu3367_Glu3367del	c.10101_10103delAGA	70	3367	Carboxy-terminal region		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 65 TREAT_NMD_AR#AHGD53 M AR 0