The UMD-TREAT_DMD mutations database
Lys to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys66X	c.196A>T	4	66	Actin binding domain		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1958 TNMD_FR#F757533011 M FR 0
p.Lys411X	c.1231A>T	11	411	CRD-repeat #1		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2530 TNMD_FR#F757226011 M FR 0
p.Lys578X	c.1732A>T	15	578	CRD-repeat #3		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12228 TNMD_JP#20101015-02 M JP 0
p.Lys770X	c.2308A>T	19	770	CRD-repeat #4		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18595 TNMD_AU#97 M AU 0
p.Lys891X	c.2671A>T	21	891	CRD-repeat #5		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8842 TNMD_DE#943CC907-48BA-4CD M DE 0
p.Lys919X	c.2755A>T	21	919	CRD-repeat #5		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9803 TNMD_GR#36 M GR 0
p.Lys930X	c.2788A>T	21	930	CRD-repeat #5		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12824 TNMD_JP#20120417-01 M JP 0 10045 TNMD_HU#2754 M HU 0
p.Lys1017X	c.3049A>T	23	1017	CRD-repeat #6		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8382 TNMD_DE#46D99C73-BBD9-49E M DE 0
p.Lys1042X	c.3124A>T	23	1042	CRD-repeat #6		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17367 TNMD-US#3632 M US 0
p.Lys1062X	c.3184A>T	24	1062	CRD-repeat #7		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 949 TNMD_CH#22 M CH 0 15161 TNMD_UK#62 M UK 0
p.Lys1188X	c.3562A>T	26	1188	CRD-repeat #8		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7717 TNMD_CN_HOSP#162 M CN 0 11622 TNMD_JP#20091127-01 M JP 0
p.Lys1400X	c.4198A>T	30	1400	CRD-repeat #10		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9811 TNMD_GR#40 M GR 0
p.Lys1524X	c.4570A>T	33	1524	CRD-repeat #11		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9856 TNMD_HK#18 M HK 0
p.Lys1568X	c.4702A>T	34	1568	CRD-repeat #11		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10421 TNMD_IT#30 M IT 0
p.Lys1571X	c.4711A>T	34	1571	CRD-repeat #12		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3264 TNMD_FR#F691500AC21 M FR 0 3262 TNMD_FR#F691500AC11 M FR 0
p.Lys1575X	c.4723A>T	34	1575	CRD-repeat #12		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3266 TNMD_FR#F759637011 M FR 0
p.Lys1615X	c.4843A>T	34	1615	CRD-repeat #12		Small rearrangement	Tv	A->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17341 TNMD-US#3572 M US 0 17159 TNMD-US#2632 M US 0 17027 TNMD-US#2372 M US 0
p.Lys1652X	c.4954A>T	35	1652	CRD-repeat #12		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7517 TNMD_CN_HOSP#262 M CN 0 3302 TNMD_FR#F759435011 M FR 0
p.Lys1870X	c.5608A>T	40	1870	CRD-repeat #14		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3400 TNMD_FR#F758237011 M FR 0 3396 TNMD_FR#F3447925391 M FR 0
p.Lys2114X	c.6340A>T	44	2114	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17441 TNMD-US#3774 M US 0
p.Lys2146X	c.6436A>T	44	2146	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7477 TNMD_CN_HOSP#282 M CN 0
p.Lys2184X	c.6550A>T	45	2184	CRD-repeat #17		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7725 TNMD_CN_HOSP#157 M CN 0
p.Lys2294X	c.6880A>T	47	2294	CRD-repeat #18		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5460 TNMD_FR#F3424714771 M FR 0
p.Lys2721X	c.8161A>T	55	2721	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 676 TNMD_CA_DM#147 M CA 0
p.Lys2732X	c.8194A>T	55	2732	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8100 TNMD_DE#0D558847-DC64-417 M AT 0
p.Lys2792X	c.8374A>T	56	2792	CRD-repeat #22		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18422 TNMD_CZ_SK#MD-B-032 M CZ 0
p.Lys3379X	c.10135A>T	70	3379	Carboxy-terminal region		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6916 TNMD_FR#F755740011 M FR 0
p.Lys3383X	c.10147A>T	70	3383	Carboxy-terminal region		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 181 TREAT_NMD_AR#AHGD103 M AR 0