The UMD-TREAT_DMD mutations database
Glu to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu252X	c.754G>T	8	252			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15797 TNMD_UK#381 M UK 0
p.Glu264X	c.790G>T	8	264	CRD-hinge region #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7157 TNMD_CN_HOSP#449 M CN 0
p.Glu326X	c.976G>T	10	326	CRD-hinge region #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2494 TNMD_FR#F750583011 M FR 0
p.Glu350X	c.1048G>T	10	350	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16053 TNMD-US#527 M US 0
p.Glu373X	c.1117G>T	10	373	CRD-repeat #1		Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16133 TNMD-US#644 M US 0 12408 TNMD_JP#20110228-03 M JP 0 12406 TNMD_JP#20110228-02 M JP 0
p.Glu459X	c.1375G>T	12	459	CRD-repeat #2		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9826 TNMD_HK#1 M HK 0 8032 TNMD_DE#038BAF78-85E4-470 M DE 0
p.Glu475X	c.1423G>T	12	475	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8516 TNMD_DE#5EB7A8C6-23AC-49C M DE 0
p.Glu476X	c.1426G>T	12	476	CRD-repeat #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8144 TNMD_DE#1583F8E5-04CD-4B9 M DE 0
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 8916 TNMD_DE#A2E6C6CF-A05C-4B4 M DE 0 8874 TNMD_DE#98619940-F267-465 M DE 0
p.Glu611X	c.1831G>T	16	611	CRD-repeat #3		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7215 TNMD_CN_HOSP#418 M CN 0
p.Glu683X	c.2047G>T	17	683	CRD-hinge region #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13072 TNMD_JP#20130214-01 M JP 0
p.Glu692X	c.2074G>T	17	692	CRD-hinge region #2		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8282 TNMD_DE#2FE41878-A838-44F M DE 0
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 TNMD_FR#F3408305471 M FR 0 18394 TNMD_CZ_SK#MDB-4512 M CZ 0
p.Glu767X	c.2299G>T	19	767	CRD-repeat #4		Small rearrangement	Tv	G->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17313 TNMD-US#3486 M US 0 16933 TNMD-US#2205 M US 0 16231 TNMD-US#824 M US 0 15127 TNMD_UK#45 M UK 0
p.Glu772X	c.2314G>T	19	772	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2894 TNMD_FR#F3451125211 M FR 0
p.Glu789X	c.2365G>T	19	789	CRD-repeat #4		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8536 TNMD_DE#610AFC39-B533-4F1 M DE 0 12404 TNMD_JP#20110228-01 M JP 0
p.Glu814X	c.2440G>T	20	814	CRD-repeat #4		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 850 TNMD_CA_DM#268 M CA 0
p.Glu862X	c.2584G>T	20	862	CRD-repeat #5		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12926 TNMD_JP#20120821-01 M JP 0
p.Glu931X	c.2791G>T	21	931	CRD-repeat #5		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17011 TNMD-US#2342 M US 0 10617 TNMD_IT#185 M IT 0
p.Glu946X	c.2836G>T	22	946	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13433 NL#D194 M NL 0
p.Glu1005X	c.3013G>T	23	1005	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11320 TNMD_JP#20090914-04 M JP 0
p.Glu1021X	c.3061G>T	23	1021	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3054 TNMD_FR#F3421113561 M FR 0
p.Glu1026X	c.3076G>T	23	1026	CRD-repeat #6		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3056 TNMD_FR#F757563011 M FR 0 16757 TNMD-US#1828 M US 0
p.Glu1066X	c.3196G>T	24	1066	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17117 TNMD-US#2545 M US 0
p.Glu1074X	c.3220G>T	24	1074	CRD-repeat #7		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 367 TNMD_BG#54 M BG 0 10103 TNMD_HU#2774 M HU 0
p.Glu1133X	c.3397G>T	25	1133	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3082 TNMD_FR#F3420011631 M FR 0
p.Glu1150X	c.3448G>T	26	1150	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11734 TNMD_JP#20100108-03 M JP 0
p.Glu1157X	c.3469G>T	26	1157	CRD-repeat #8		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14129 TNMD_PT#15 M PT 0
p.Glu1179X	c.3535G>T	26	1179	CRD-repeat #8		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3112 TNMD_FR#F751131011 M FR 0 3108 TNMD_FR#F3444222371 M FR 0
p.Glu1186X	c.3556G>T	26	1186	CRD-repeat #8		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9870 TNMD_HK#26 M HK 0
p.Glu1205X	c.3613G>T	27	1205	CRD-repeat #8		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12300 TNMD_JP#20101130-02 M JP 0
p.Glu1376X	c.4126G>T	30	1376	CRD-repeat #10		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12618 TNMD_JP#20110913-02 M JP 0 12616 TNMD_JP#20110913-01 M JP 0
p.Glu1514X	c.4540G>T	33	1514	CRD-repeat #11		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8506 TNMD_DE#5D23C84A-8E30-446 M DE 0
p.Glu1543X	c.4627G>T	33	1543	CRD-repeat #11		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16413 TNMD-US#1126 M US 0 1007 TNMD_CH#52 M CH 0
p.Glu1579X	c.4735G>T	34	1579	CRD-repeat #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16745 TNMD-US#1811 M US 0
p.Glu1593X	c.4777G>T	34	1593	CRD-repeat #12		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3272 TNMD_FR#F3411607191 M FR 0
p.Glu1682X	c.5044G>T	36	1682	CRD-repeat #13		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13140 TNMD_JP#20130418-01 M JP 0
p.Glu1723X	c.5167G>T	37	1723	CRD-repeat #13		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13926 TNMD_PL#PL/2001-06-22/DMD/242 M PL 0
p.Glu1826X	c.5476G>T	39	1826	CRD-repeat #14		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8286 TNMD_DE#30542484-32BE-4BD M DE 0 10513 TNMD_IT#106 M IT 0
p.Glu1845X	c.5533G>T	39	1845	CRD-repeat #14		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14384 TNMD_RU#1 M RU 0
p.Glu1874X	c.5620G>T	40	1874	CRD-repeat #14		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15253 TNMD_UK#108 M UK 0
p.Glu1924X	c.5770G>T	41	1924	CRD-repeat #15		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12516 TNMD_JP#20110523-01 M JP 0
p.Glu1946X	c.5836G>T	41	1946	CRD-repeat #15		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8918 TNMD_DE#A30F2C05-D6EE-435 M DE 0
p.Glu1958X	c.5872G>T	41	1958	CRD-repeat #15		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9172 TNMD_DE#D1B3C7A5-5F68-45A M DE 0
p.Glu1960X	c.5878G>T	41	1960	CRD-repeat #15		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 810 TNMD_CA_DM#237 M CA 0 808 TNMD_CA_DM#236 M CA 0
p.Glu2122X	c.6364G>T	44	2122	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3638 TNMD_FR#F754302011 M FR 0
p.Glu2147X	c.6439G>T	45	2147	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18776 TNMD_NZ#121 M NZ 0
p.Glu2167X	c.6499G>T	45	2167	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13573 NL#D298 M NL 0
p.Glu2168X	c.6502G>T	45	2168	CRD-repeat #17		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9372 TNMD_DE#F6E410A5-CA2E-420 M DE 0
p.Glu2248X	c.6742G>T	46	2248	CRD-repeat #18		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5414 TNMD_FR#F751258011 M FR 0
p.Glu2317X	c.6949G>T	48	2317	CRD-repeat #18		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11362 TNMD_JP#20090925-03 M JP 0
p.Glu2460X	c.7378G>T	51	2460	CRD-hinge region #3		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6254 TNMD_FR#F751697011 M FR 0
p.Glu2566X	c.7696G>T	53	2566	CRD-repeat #20		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10701 TNMD_IT#255 M IT 0
p.Glu2685X	c.8053G>T	55	2685	CRD-repeat #21		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12134 TNMD_JP#20100804-01 M JP 0 11808 TNMD_JP#20100205-03 M JP 0
p.Glu2726X	c.8176G>T	55	2726	CRD-repeat #22		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6538 TNMD_FR#F3414709031 M FR 0
p.Glu2767X	c.8299G>T	56	2767	CRD-repeat #22		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13058 TNMD_JP#20130123-01 M JP 0
p.Glu2827X	c.8479G>T	57	2827	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12458 TNMD_JP#20110411-02 M JP 0
p.Glu2854X	c.8560G>T	58	2854	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11542 TNMD_JP#20091111-03 M JP 0
p.Glu2910X	c.8728G>T	59	2910	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6614 TNMD_FR#F751113011 M FR 0
p.Glu2931X	c.8791G>T	59	2931	CRD-repeat #23		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1105 TNMD_CH#101 M CH 0
p.Glu2976X	c.8926G>T	59	2976	CRD-repeat #24		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16615 TNMD-US#1550 M US 0
p.Glu3250X	c.9748G>T	67	3250	Cystein-rich domain		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 935 TNMD_CH#15 M CH 0
p.Glu3358X	c.10072G>T	69	3358	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 210 TNMD_BE_AR#6 M BE 0