The UMD-TREAT_DMD mutations database
Leu to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu140SerfsX2	c.418delC	6	140	Actin binding domain		Small rearrangement	Fr.	Stop at 141	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11732 TNMD_JP#20100108-02 M JP 0
p.Asn170MetfsX38	c.507delG	6	169	Actin binding domain		Small rearrangement	Fr.	Stop at 207	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8780 TNMD_DE#8A39EB5E-3E8E-498 M DE 0
p.Leu412TyrfsX13	c.1235delT	11	412	CRD-repeat #1		Small rearrangement	Fr.	Stop at 424	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2532 TNMD_FR#F757627011 M FR 0
p.Leu500X	c.1498delC	13	500	CRD-repeat #2		Small rearrangement	Fr.	Stop at 500	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11902 TNMD_JP#20100312-03 M JP 0
p.Tyr621PhefsX13	c.1860_1861delGT	16	620	CRD-repeat #3		Small rearrangement	Fr.	Stop at 633	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2742 TNMD_FR#F372454104651 M FR 0
p.Ser820ArgfsX25	c.2457_2460delAAGT	20	819	CRD-repeat #4		Small rearrangement	Fr.	Stop at 844	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2932 TNMD_FR#F3436718821 M FR 0
p.Leu826SerfsX19	c.2476_2479delCTGG	20	826	CRD-repeat #4		Small rearrangement	Fr.	Stop at 844	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7841 TNMD_CN_HOSP#97 M CN 0
p.Lys854AsnfsX13	c.2559_2560delGA	20	853	CRD-repeat #5		Small rearrangement	Fr.	Stop at 866	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2942 TNMD_FR#F759222011 M FR 0
p.Leu880TyrfsX11	c.2638delC	21	880	CRD-repeat #5		Small rearrangement	Fr.	Stop at 890	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2960 TNMD_FR#F753615011 M FR 0
p.Leu939AlafsX29	c.2815_2816delTT	22	939	CRD-repeat #6		Small rearrangement	Fr.	Stop at 967	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3024 TNMD_FR#F3432917691 M FR 0
p.Leu1050ProfsX11	c.3149delT	23	1050	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1060	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9783 TNMD_GR#26 M GR 0
p.Leu1152LysfsX17	c.3454_3479del	26	1152	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1168	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12324 TNMD_JP#20110104-01 M JP 0
p.Glu1241X	c.3720_3726del	27	1240	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1241	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8658 TNMD_DE#76933127-E711-4D5 M DE 0
p.Leu1243AsnfsX10	c.3727_3728delCT	27	1243	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1252	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8194 TNMD_DE#1FF11933-45DB-4C5 M DE 0 15197 TNMD_UK#80 M UK 0 15195 TNMD_UK#79 M UK 0 15193 TNMD_UK#78 M UK 0
p.Leu1508CysfsX5	c.4523delT	33	1508	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1512	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16845 TNMD-US#2040 M US 0
p.Leu1512GlnfsX2	c.4535_4536delTG	33	1512	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1513	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11268 TNMD_JP#20090828-01 M JP 0
p.Leu1548X	c.4643delT	33	1548	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1548	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3256 TNMD_FR#F69223469m1 M FR 0
p.Leu1780X	c.5339delT	38	1780	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1780	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1233 TNMD_CH#165 M CH 0
p.Leu1793SerfsX2	c.5378_5379delTG	38	1793	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1794	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17035 TNMD-US#2379 M US 0
p.Glu1795AsnfsX11	c.5382delT	38	1794	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15241 TNMD_UK#102 M UK 0
p.Glu2352ArgfsX5	c.7053_7075del	48	2351	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2356	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7597 TNMD_CN_HOSP#224 M CN 0
p.Leu2416TyrfsX5	c.7247delT	50	2416	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2420	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6074 TNMD_FR#F750662011 M FR 0
p.Leu2431HisfsX20	c.7292_7296delTGACC	50	2431	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2450	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 448 TNMD_CA_DM#13 M CA 0
p.Leu2467AlafsX5	c.7399_7454del	51	2467	CRD-hinge region #3		Small rearrangement	Fr.	Stop at 2471	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8342 TNMD_DE#3ECF7B04-2595-435 M DE 0
p.Leu2596X	c.7787delT	53	2596	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2596	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12132 TNMD_JP#20100802-03 M JP 0
p.Leu2626SerfsX13	c.7877_7887del	54	2626	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2638	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7461 TNMD_CN_HOSP#291 M CN 0
p.Leu2690TyrfsX36	c.8069delT	55	2690	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 484 TNMD_CA_DM#35 M CA 0
p.Leu2696ArgfsX30	c.8087delT	55	2696	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2725	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6536 TNMD_FR#F3440420391 M FR 0
p.Leu2755TrpfsX9	c.8263delC	56	2755	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2763	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16079 TNMD-US#552 M US 0 16077 TNMD-US#550 M US 0
p.Leu2884ProfsX9	c.8651_8655delTCTAC	58	2884	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9296 TNMD_DE#E6149DBD-79EA-438 M DE 0
p.Asn2919ThrfsX11	c.8754delG	59	2918	CRD-repeat #23		Small rearrangement	Fr.	Stop at 2929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6616 TNMD_FR#F3410206901 M FR 0
p.Leu2936ProfsX9	c.8807_8808delTC	59	2936	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2944	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6618 TNMD_FR#F3423513431 M FR 0
p.Lys2949SerfsX7	c.8844delC	59	2948	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2955	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6622 TNMD_FR#F750460011 M FR 0 6624 TNMD_FR#F7504601101 M FR 0
p.Leu2971ProfsX26	c.8911_8912delCT	59	2971	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2996	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9356 TNMD_DE#F11946D3-E9D8-467 M DE 0
p.Leu3124GlufsX7	c.9370_9371delTT	65	3124	Cystein-rich domain		Small rearrangement	Fr.	Stop at 3130	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 250 TNMD_BE_AR#27 M BE 0
p.Leu3376X	c.10126delC	70	3376	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3376	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6910 TNMD_FR#F3408505521 M FR 0 6914 TNMD_FR#F756911011 M FR 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 7014 TNMD_FR#F750851011 M FR 0 18491 TNMD_AU#61 M AU 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 TNMD_FR#F759615011 M FR 0 17135 TNMD-US#2566 M US 0 16073 TNMD-US#546 M US 0 13026 TNMD_JP#20121206-01 M JP 0