The UMD-TREAT_DMD mutations database
Trp to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Trp112X	c.336G>A	5	112	Actin binding domain		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14394 TNMD_RU#6 M RU 0 13441 NL#D201 M NL 0
p.Trp118X	c.354G>A	5	118	Actin binding domain		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9568 TNMD_ES1#AMA M ES 0 8558 TNMD_DE#647A2CBD-ABFC-49E M DE 0 7275 TNMD_CN_HOSP#387 M CN 0
p.Trp143X	c.428G>A	6	143	Actin binding domain		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12296 TNMD_JP#20101129-04 M JP 0
p.Trp354X	c.1061G>A	10	354	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11328 TNMD_JP#20090915-01 M JP 0 15840 TNMD_FI#FIN20 M FI 0
p.Trp354X	c.1062G>A	10	354	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7579 TNMD_CN_HOSP#233 M CN 0 704 TNMD_CA_DM#169 M CA 0
p.Trp431X	c.1292G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 628 TNMD_CA_DM#116 M CA 0 2542 TNMD_FR#F755059011 M FR 0
p.Trp431X	c.1293G>A	11	431	CRD-repeat #1		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2540 TNMD_FR#F3436018751 M FR 0
p.Trp463X	c.1388G>A	12	463	CRD-repeat #2		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2604 TNMD_FR#F3418912571 M FR 0 1 TREAT_NMD_AR#AHGD78 M AR 0
p.Trp546X	c.1638G>A	14	546	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 TREAT_NMD_AR#AHGD17 M AR 0
p.Trp551X	c.1652G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11326 TNMD_JP#20090914-07 M JP 0 11049 TNMD_IT#511 M IT 0
p.Trp551X	c.1653G>A	14	551	CRD-repeat #2		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2706 TNMD_FR#F759356011 M FR 0
p.Trp561X	c.1683G>A	14	561	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2708 TNMD_FR#F758026011 M FR 0
p.Trp574X	c.1722G>A	15	574	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8150 TNMD_DE#173AAE57-B5C6-4EB M DE 0
p.Trp643X	c.1928G>A	16	643	CRD-repeat #3		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9132 TNMD_DE#C8BF22CB-39A8-425 M DE 0
p.Trp812X	c.2435G>A	20	812	CRD-repeat #4		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8920 TNMD_DE#A3256D9E-DC9B-4F5 M DE 0 18555 TNMD_AU#226 M AU 0 13038 TNMD_JP#20121226-01 M JP 0
p.Trp1029X	c.3087G>A	23	1029	CRD-repeat #6		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15153 TNMD_UK#58 M UK 0
p.Trp1063X	c.3188G>A	24	1063	CRD-repeat #7		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16031 TNMD-US#473 M US 0 15163 TNMD_UK#63 M UK 0
p.Trp1172X	c.3516G>A	26	1172	CRD-repeat #8		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8612 TNMD_DE#6D8E0A48-0687-40E M DE 0
p.Trp1249X	c.3746G>A	27	1249	CRD-repeat #8		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3152 TNMD_FR#F3431717221 M FR 0
p.Trp1268X	c.3804G>A	28	1268	CRD-repeat #9		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16733 TNMD-US#1789 M US 0
p.Trp1586X	c.4758G>A	34	1586	CRD-repeat #12		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10763 TNMD_IT#299 M IT 0
p.Trp1694X	c.5082G>A	36	1694	CRD-repeat #13		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3320 TNMD_FR#F750156011 M FR 0 12778 TNMD_JP#20120307-01 M JP 0
p.Trp1879X	c.5637G>A	40	1879	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3402 TNMD_FR#F755473011 M FR 0
p.Trp1956X	c.5868G>A	41	1956	CRD-repeat #15		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16179 TNMD-US#747 M US 0
p.Trp2085X	c.6255G>A	43	2085	CRD-repeat #16		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3474 TNMD_FR#F759486011 M FR 0 3472 TNMD_FR#F690430BJ71 M FR 0
p.Trp2119X	c.6356G>A	44	2119	CRD-repeat #17		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12636 TNMD_JP#20110928-01 M JP 0
p.Trp2226X	c.6677G>A	46	2226	CRD-repeat #18		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10497 TNMD_IT#96 M IT 0 10495 TNMD_IT#95 M IT 0
p.Trp2302X	c.6905G>A	47	2302	CRD-repeat #18		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18418 TNMD_CZ_SK#MDB-215 M CZ 0
p.Trp2302X	c.6906G>A	47	2302	CRD-repeat #18		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17359 TNMD-US#3617 M US 0
p.Trp2343X	c.7028G>A	48	2343	CRD-repeat #19		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8960 TNMD_DE#A78F8B30-9201-4E4 M DE 0
p.Trp2343X	c.7029G>A	48	2343	CRD-repeat #19		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15675 TNMD_UK#319 M UK 0
p.Trp2410X	c.7229G>A	50	2410	CRD-repeat #19		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15737 TNMD_UK#351 M UK 0
p.Trp2585X	c.7755G>A	53	2585	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9830 TNMD_HK#3 M HK 0
p.Trp2670X	c.8009G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6498 TNMD_FR#F750978011 M FR 0 894 TNMD_CA_DM#300 M CA 0 9272 TNMD_DE#E2A1A577-CDDC-4EE M DE 0 896 TNMD_CA_DM#301 M CA 0
p.Trp2670X	c.8010G>A	54	2670	CRD-repeat #21		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11978 TNMD_JP#20100419-02 M JP 0
p.Trp2738X	c.8214G>A	55	2738	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 506 TNMD_CA_DM#49 M CA 0
p.Trp2807X	c.8420G>A	57	2807	CRD-repeat #23		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1243 TNMD_CH#170 M CH 0 6578 TNMD_FR#F755937011 M FR 0
p.Trp2820X	c.8459G>A	57	2820	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12122 TNMD_JP#20100723-01 M JP 0
p.Trp2915X	c.8745G>A	59	2915	CRD-repeat #23		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9898 TNMD_HK#42 M HK 0
p.Trp2925X	c.8775G>A	59	2925	CRD-repeat #23		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15909 TNMD-US#281 M US 0 16253 TNMD-US#873 M US 0
p.Trp3061X	c.9182G>A	62	3061	CRD-hinge region #4		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18430 TNMD_CZ_SK#MDB-4217 M CZ 0
p.Trp3061X	c.9183G>A	62	3061	CRD-hinge region #4		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10759 TNMD_IT#296 M IT 0
p.Trp3284X	c.9851G>A	68	3284	Cystein-rich domain		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11678 TNMD_JP#20091216-05 M JP 0