The UMD-TREAT_DMD mutations database
Missense mutations (31 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.0			0			Small rearrangement			1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12294 TNMD_JP#20101129-03 M JP 0
p.Val25Glu	c.74T>A	2	25	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8526 TNMD_DE#60ABF262-E50A-4C4 M DE 0
p.Ile114Lys	c.341T>A	5	114	Actin binding domain		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9282 TNMD_DE#E3B002D3-9864-403 M DE 0
p.Leu116Pro	c.347T>C	5	116	Actin binding domain		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7417 TNMD_CN_HOSP#314 M CN 0
p.Gly410Val	c.1229G>T	11	410	CRD-repeat #1		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16583 TNMD-US#1470 M US 0
p.Glu440Lys	c.1318G>A	11	440	CRD-repeat #1		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7273 TNMD_CN_HOSP#388 M CN 0
p.Glu577Asp	c.1731A>T	15	577	CRD-repeat #3		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9433 TNMD_EG#8 M EG 0
p.Phe590Leu	c.1768T>C	15	590	CRD-repeat #3		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2722 TNMD_FR#F759819011 M FR 0
p.Glu753Lys	c.2257G>A	18	753	CRD-repeat #4		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 913 TNMD_CH#4 M CH 0
p.Asn793Ser	c.2378A>G	19	793	CRD-repeat #4		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2906 TNMD_FR#F753150011 M FR 0
p.Pro863Ala	c.2587C>G	20	863	CRD-repeat #5		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10131 TNMD_HU#2782 M HU 0
p.Ser868Gly	c.2602A>G	20	868	CRD-repeat #5		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1237 TNMD_CH#167 M CH 0 1235 TNMD_CH#166 M CH 0
p.Gln983His	c.2949G>C	22	983	CRD-repeat #6		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8140 TNMD_DE#143F2398-AD4B-40C M AT 0
p.Gln983His	c.2949G>T	22	983	CRD-repeat #6		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15149 TNMD_UK#56 M UK 0
p.Gln1144His	c.3432G>T	25	1144	CRD-repeat #7		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7703 TNMD_CN_HOSP#169 M CN 0
p.Leu1344Phe	c.4030C>T	29	1344	CRD-repeat #9		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7515 TNMD_CN_HOSP#263 M CN 0
p.Ser1419Arg	c.4257T>A	31	1419	CRD-repeat #10		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10159 TNMD_HU#2793 M HU 0
p.Asp1815Gly	c.5444A>G	38	1815	CRD-repeat #14		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7361 TNMD_CN_HOSP#342 M CN 0
p.Arg2155Trp	c.6463C>T	45	2155	CRD-repeat #17		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13716 TNMD_PL#PL/1992-07-29/DMD/106 M PL 0
p.Leu2256Leu	c.6766C>T	47	2256	CRD-repeat #18		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5448 TNMD_FR#F751012111 M FR 0 5446 TNMD_FR#F751012011 M FR 0
p.Arg2797Lys	c.8390G>A	56-57	2797	CRD-repeat #22		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17712 TNMD_CN_ORG#DMD_67 M CN 0
p.Glu2890Lys	c.8668G>A	58-59	2890	CRD-repeat #23		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10423 TNMD_IT#32 M IT 0 6604 TNMD_FR#F7510084011 M FR 0
p.Cys3319Arg	c.9955T>C	68	3319	Carboxy-terminal region		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6860 TNMD_FR#F753640011 M FR 0
p.Phe3332Cys	c.9995T>G	69	3332	Carboxy-terminal region		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6872 TNMD_FR#F3426416701 M FR 0 6870 TNMD_FR#F6926416701 M FR 0
p.Asp3335Tyr	c.10003G>T	69	3335	Carboxy-terminal region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6874 TNMD_FR#F3426818461 M FR 0
p.Cys3337Tyr	c.10010G>A	69	3337	Carboxy-terminal region		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 10819 TNMD_IT#347 M IT 0
p.Cys3340Arg	c.10018T>C	69	3340	Carboxy-terminal region		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6876 TNMD_FR#F3426416701 M FR 0