The UMD-TREAT_DMD mutations database
Lys to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys61ThrfsX27	c.182_183delAA	3	61	Actin binding domain		Small rearrangement	Fr.	Stop at 87	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15097 TNMD_UK#30 M UK 0
p.Gly67AspfsX8	c.198delA	4	66	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1956 TNMD_FR#F3430216611 M FR 0
p.Lys138AspfsX12	c.412_413delAA	6	138	Actin binding domain		Small rearrangement	Fr.	Stop at 149	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11774 TNMD_JP#20100127-02 M JP 0
p.Lys494SerfsX24	c.1481_1482delAG	12	494	CRD-repeat #2		Small rearrangement	Fr.	Stop at 517	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12162 TNMD_JP#20100831-01 M JP 0
p.Lys591CysfsX11	c.1771_1786del	15	591	CRD-repeat #3		Small rearrangement	Fr.	Stop at 601	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2724 TNMD_FR#F759819011 M FR 0
p.Ala608ArgfsX3	c.1821delA	16	607	CRD-repeat #3		Small rearrangement	Fr.	Stop at 610	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7357 TNMD_CN_HOSP#344 M CN 0
p.Lys624AsnfsX8	c.1872delA	16	624	CRD-repeat #3		Small rearrangement	Fr.	Stop at 631	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7155 TNMD_CN_HOSP#450 M CN 0
p.Lys660GlufsX59	c.1978_1979delAA	16	660	CRD-repeat #3		Small rearrangement	Fr.	Stop at 718	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2744 TNMD_FR#F3443323361 M FR 0
p.Ser868ValfsX3	c.2601delA	20	867	CRD-repeat #5		Small rearrangement	Fr.	Stop at 870	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9864 TNMD_HK#22 M HK 0
p.Gln869ValfsX5	c.2601_2602delAA	20	867	CRD-repeat #5		Small rearrangement	Fr.	Stop at 873	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16185 TNMD-US#757 M US 0
p.Lys891AsnfsX28	c.2673_2674delAA	21	891	CRD-repeat #5		Small rearrangement	Fr.	Stop at 918	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12962 TNMD_JP#20120926-01 M JP 0
p.Glu1005ArgfsX39	c.3012delA	23	1004	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1043	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15151 TNMD_UK#57 M UK 0
p.Lys1062AsnfsX10	c.3183delG	24	1061	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1071	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11544 TNMD_JP#20091112-02 M JP 0
p.Lys1086SerfsX3	c.3257delA	24	1086	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1088	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3066 TNMD_FR#F750492011 M FR 0
p.Lys1116MetfsX36	c.3347_3350delAGAA	25	1116	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1151	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3080 TNMD_FR#F3506800901 M FR 0
p.Glu1211LysfsX4	c.3630delA	27	1210	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1214	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7723 TNMD_CN_HOSP#158 M CN 0
p.Lys1238ArgfsX6	c.3713delA	27	1238	CRD-repeat #8		Small rearrangement	Fr.	Stop at 1243	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 991 TNMD_CH#44 M CH 0
p.Lys1288AsnfsX19	c.3864delA	28	1288	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1306	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3174 TNMD_FR#F3421412721 M FR 0
p.Lys1363ValfsX3	c.4087_4088delAA	30	1363	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1365	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13062 TNMD_JP#20130130-02 M JP 0
p.Lys1450AsnfsX7	c.4350delA	32	1450	CRD-repeat #10		Small rearrangement	Fr.	Stop at 1456	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1227 TNMD_CH#162 M CH 0
p.Lys1491GlufsX19	c.4471_4472delAA	32	1491	CRD-repeat #11		Small rearrangement	Fr.	Stop at 1509	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15887 TNMD-US#255 M US 0
p.Lys1575ArgfsX6	c.4724delA	34	1575	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1580	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11488 TNMD_JP#20091030-01 M JP 0
p.Glu1620ArgfsX9	c.4857delA	35	1619	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7599 TNMD_CN_HOSP#223 M CN 0 3292 TNMD_FR#F3422013691 M FR 0
p.Lys1693SerfsX28	c.5078delA	36	1693	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8200 TNMD_DE#20C19FED-2A3C-488 M DE 0
p.Lys1708AsnfsX12	c.5124_5127delGAAA	36	1708	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1719	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1187 TNMD_CH#142 M CH 0 1185 TNMD_CH#141 M CH 0
p.Glu1714LysfsX7	c.5139delA	36	1713	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3322 TNMD_FR#F3425814841 M FR 0
p.Glu1826AsnfsX22	c.5475delA	39	1825	CRD-repeat #14		Small rearrangement	Fr.	Stop at 1847	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 436 TNMD_CA_DM#6 M CA 0
p.Lys1899AsnfsX2	c.5697delA	40	1899	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1900	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3406 TNMD_FR#F69181836m1 M FR 0 13255 NL#D043 M NL 0
p.Lys1923GlyfsX7	c.5766_5770delGAAAG	41	1922	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3420 TNMD_FR#F750746011 M FR 0
p.Lys1923ArgfsX3	c.5768_5771delAAGA	41	1923	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1925	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3422 TNMD_FR#F759378011 M FR 0
p.Lys2129HisfsX33	c.6385_6388delAAGA	44	2129	CRD-repeat #17		Small rearrangement	Fr.	Stop at 2161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9926 TNMD_HK#61 M HK 0
p.Lys2249SerfsX22	c.6746delA	46	2249	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2270	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 14008 TNMD_PL#PL/1997-09-15/DMD/98 M PL 0
p.Lys2268AsnfsX2	c.6804_6807delACAA	47	2268	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2269	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5452 TNMD_FR#F750791011 M FR 0 11690 TNMD_JP#20091221-02 M JP 0
p.Asp2322ThrfsX16	c.6963delA	48	2321	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2337	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8694 TNMD_DE#7D7E7B06-DD18-4F1 M AT 0
p.Lys2329SerfsX9	c.6986delA	48	2329	CRD-repeat #19		Small rearrangement	Fr.	Stop at 2337	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12254 TNMD_JP#20101104-02 M JP 0
p.Lys2580ArgfsX17	c.7739delA	53	2580	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2596	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6474 TNMD_FR#F757564011 M FR 0
p.Lys2624ThrfsX18	c.7871_7872delAG	53	2624	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2641	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9286 TNMD_DE#E46A8895-E3EF-4EC M DE 0
p.Glu2733SerfsX2	c.8196delA	55	2732	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2734	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16851 TNMD-US#2054 M US 0
p.Lys2785GlyfsX34	c.8353_8368del	56	2785	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2818	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17768 TNMD_CN_ORG#DMD_93 M CN 0
p.Lys2792ValfsX5	c.8374_8375delAA	56	2792	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2796	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6574 TNMD_FR#F69120122MA1 M FR 0
p.Lys2977SerfsX11	c.8929_8932delAAAG	59	2977	CRD-repeat #24		Small rearrangement	Fr.	Stop at 2987	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 409 TNMD_BG#77 M BG 0
p.Lys3111AsnfsX14	c.9333delA	64	3111	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3124	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6744 TNMD_FR#F69209068m1 M FR 0
p.Lys3379AsnfsX23	c.10137delA	70	3379	Carboxy-terminal region		Small rearrangement	Fr.	Stop at 3401	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11740 TNMD_JP#20100114-02 M JP 0