AiPD: Autoinhibited Protein Database

Q06413

Gene name	MEF2C
Protein name	Myocyte-specific enhancer factor 2C
Names	Myocyte enhancer factor 2C
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4208
EC number
Protein Class	SERUM RESPONSE FACTOR HOMOLOG (PTHR48019)

Descriptions

MEF2 factors regulate transcription during cardiac and skeletal myogenesis. Phosphorylation by p38 at Thr 293 and Thr 300 within a linker region, and Ser 387 within transcription repressor domain enhances MEF2C activity allosterically, which implicates potential mechanism of autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	1-61 (Transcription factor, MADS-box)
Relief mechanism	PTM
Assay	Mutagenesis experiment

AID

279-367 (Linker)

Target domain

1-61 (Transcription factor, MADS-box)

Relief mechanism

PTM (Phosphorylation of T80 in the MADS/MEF2 domain)

Assay

Mutagenesis experiment

Target domain	1-61 (Transcription factor, MADS-box)
Relief mechanism	PTM
Assay	Mutagenesis experiment

AID

368-399 (Transcription repressor domain)

Target domain

1-61 (Transcription factor, MADS-box)

Relief mechanism

PTM (Phosphorylation of T80 in the MADS/MEF2 domain)

Assay

Mutagenesis experiment

Accessory elements

No accessory elements

References

Han J et al. (1997) "Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation", Nature, 386, 296-9

Al Madhoun AS et al. (2011) "Skeletal myosin light chain kinase regulates skeletal myogenesis by phosphorylation of MEF2C", The EMBO journal, 30, 2477-89

Autoinhibited structure

Activated structure

1 structures for Q06413

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q06413-F1	Predicted				AlphaFoldDB

213 variants for Q06413

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000678390 rs1554150607	1	M>I	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
RCV000254756 RCV000192846 rs545185248	1	M>T	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
RCV000223956 CA10575830 rs876661308	3	R>S	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA360425322 rs1554150584 RCV000551180	7	Q>H	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1202957297 RCV001592945 CA360425268 RCV000760219	15	R>H	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000627395 RCV001374908 rs1554150552	16	N>*	Neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
rs1554150543 RCV000509200 RCV000498824	17	R>*	MEF2C-Related Disorder [ClinVar]	Yes	ClinVar dbSNP
rs1554139870 CA360425220 RCV000624618	20	T>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000191104 rs797045053 CA250375	23	K>R	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs869312698 RCV000209864 CA358360	24	R>K	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000033231 CA130789 rs397514656	27	G>A	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1799677960 RCV001262292	37	V>A	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs397514655 CA360425096 RCV000622665	38	L>P	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000033229 CA130787 rs397514655	38	L>Q	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000623153 rs1554139771	41	C>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA16043612 rs1057519001 RCV000415447	51	T>I	Epilepsy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001253221 rs1554139743	59	S>R	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
RCV000791953 rs1580988138	65	V>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs1580988074 CA360424902 RCV001027718	65	V>G	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554139723 RCV000718187 RCV000623417	72	Y>missing	History of neurodevelopmental disorder Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001861501 RCV000419451 rs755436703 CA3337341	103	A>V	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000844907 rs1581753788	138	P>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs1581753587 RCV000844906	138	P>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
RCV000698332 rs1366038563 CA360423978	147	I>S	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000033232 rs730882192	153	N>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs1772953161 RCV001253802	178	Q>*	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
RCV000693696 rs1250885583 CA360423751	182	M>V	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA172586 COSM1439034 RCV000578993 COSM327913 rs587783747 COSM50878 RCV000146362	189	R>*	large_intestine skin Intellectual disability, autosomal dominant 20 breast [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA360423655 RCV001214620 rs1310323196	197	G>R	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000576280 rs1554110298	205	T>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
RCV000009503 rs267607233 CA120008	228	S>*	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1071074 CA315931 rs796052733 COSM1595701 COSM1071073 RCV000754665	256	R>*	endometrium Autism spectrum disorder [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs1561697465 RCV000691890	261	P>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
CA360423169 RCV000719591 rs1561697163	267	M>T	History of neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs587783749 RCV000146367 RCV000255477	277	L>*	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs777826971 RCV000656084 CA3337223	287	S>L	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000820312 rs1581338441	303	L>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs796052726 RCV000576225 CA315910 RCV000767165 RCV000188143	327	S>T	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1759964009 RCV001059842	330	L>missing	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinVar dbSNP
rs796052727 CA315913 RCV000188144 RCV001515418	343	H>Q	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA208800 rs753002290 RCV000725072 RCV002056996 RCV000194560	403	T>A	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA360421905 rs1360994640 RCV001332879	440	R>Q	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA360421876 RCV000535043 rs1554098567	444	H>P	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA172583 rs607159 RCV000146361	468	S>F	Intellectual disability, autosomal dominant 20 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001257690 rs1227804681	474	T>R	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs1554150590 RCV000762149	5	K>missing		No	ClinVar dbSNP
RCV000659017 rs1554150590	5	K>missing		No	ClinVar dbSNP
CA3337404 rs767074467	8	I>S		No	ClinGen ExAC gnomAD
rs528434394 CA122618652	11	I>V		No	ClinGen Ensembl
rs965091526 CA122618651	12	M>V		No	ClinGen TOPMed
CA315916 rs796052728 RCV000188145	15	R>C		No	ClinGen ClinVar Ensembl dbSNP
rs774923789 CA3337402	16	N>D		No	ClinGen ExAC gnomAD
CA360425204 RCV001003588 rs1580990072	22	T>R		No	ClinGen ClinVar Ensembl dbSNP
rs1057518382 CA16042532 RCV000414651	31	K>N		No	ClinGen ClinVar Ensembl dbSNP
rs1057520584 RCV000418485 CA16604939	34	E>*		No	ClinGen ClinVar Ensembl dbSNP
COSM738977 rs765658557 COSM1150141 CA360425102	37	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3337377 rs765658557	37	V>M		No	ClinGen ExAC gnomAD
CA315919 VAR_078621 rs796052729 RCV000188146	39	C>R	probable disease-associated variant found in a patient with infantile onset epileptic encephalopathy and autism spectrum disorder [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
rs796052732 RCV000188149	40	D>missing		No	ClinVar dbSNP
rs1554139771 CA658772656	41	C>*		No	ClinGen Ensembl
CA243260 rs794727493 RCV000177153	41	C>R		No	ClinGen ClinVar Ensembl dbSNP
CA360425015 rs1156748158	50	S>G		No	ClinGen gnomAD
CA315922 rs1554139743	59	S>R		No	ClinGen Ensembl
rs199802258 CA122616691	64	K>E		No	ClinGen 1000Genomes
RCV001263271 rs1799641525	66	L>V		No	ClinVar dbSNP
rs768621677 CA360424844	73	N>K		No	ClinGen ExAC TOPMed gnomAD
CA122616690 rs17852407	75	P>Q		No	ClinGen Ensembl
rs577764467 CA3337368	77	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA360424804 RCV000658068 rs1554139693	79	R>P		No	ClinGen ClinVar Ensembl dbSNP
CA3337367 rs745588042	81	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1284065269 CA360424765	85	V>L		No	ClinGen gnomAD
CA3337344 rs757991225	89	R>K		No	ClinGen ExAC gnomAD
CA360424700 rs1388407854	93	L>F		No	ClinGen gnomAD
CA3337343 rs752200616	96	C>W		No	ClinGen ExAC gnomAD
CA3337342 rs779532631	101	P>R		No	ClinGen ExAC gnomAD
CA360424604 rs750647048	107	V>I		No	ClinGen ExAC TOPMed gnomAD
rs750647048 CA3337338	107	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1267170072 CA360424589	109	H>R		No	ClinGen TOPMed
rs191857330 CA122611832	111	P>S		No	ClinGen 1000Genomes
CA360424566 rs1340835191	112	E>D		No	ClinGen gnomAD
CA122611831 rs6898012	121	N>D		No	ClinGen Ensembl
rs1039592903 CA122611830	129	S>R		No	ClinGen Ensembl
CA360424438 rs1267463351	130	R>G		No	ClinGen TOPMed
rs1267052010 CA360424062	135	A>S		No	ClinGen gnomAD
rs1222185162 CA360424057	136	V>L		No	ClinGen gnomAD
CA360424035 rs1206321054	139	P>H		No	ClinGen TOPMed
CA360423987 rs1581753302	146	S>P		No	ClinGen Ensembl
rs1366038563 CA360423979	147	I>T		No	ClinGen TOPMed gnomAD
CA360423967 rs1057349061	149	V>A		No	ClinGen gnomAD
CA122610890 rs1057349061	149	V>E		No	ClinGen gnomAD
rs1581752987 CA360423964	150	S>P		No	ClinGen Ensembl
rs937519642 CA122610889	151	S>N		No	ClinGen TOPMed
CA360423950 rs1370166849	152	H>N		No	ClinGen gnomAD
CA122610887 rs927377195	155	L>V		No	ClinGen Ensembl
CA3337285 rs770331071	156	V>G		No	ClinGen ExAC gnomAD
CA360423856 rs1269917666	166	N>Y		No	ClinGen gnomAD
CA360423845 rs1269161698	167	P>H		No	ClinGen gnomAD
CA360423846 rs1322552264	167	P>S		No	ClinGen gnomAD
CA360423811 rs1266613767	173	A>T		No	ClinGen gnomAD
CA3337282 rs747344450	174	H>N		No	ClinGen ExAC gnomAD
rs1554112122 CA315904	175	P>S		No	ClinGen Ensembl
rs1057521189 CA16604989 RCV000437126	176	S>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1342956146 CA360423777	178	Q>H		No	ClinGen gnomAD
rs1561821810 CA360423721	186	V>A		No	ClinGen Ensembl
COSM282757 COSM282756 rs777918857 CA3337281	189	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV000481751 rs1554112069	190	P>missing		No	ClinVar dbSNP
rs1302283751 CA360423701	190	P>A		No	ClinGen gnomAD
rs1426913388 CA360423636	198	G>D		No	ClinGen gnomAD
CA122610584 rs1029856807	198	G>S		No	ClinGen TOPMed
CA360423632 rs1472815211	199	L>V		No	ClinGen gnomAD
CA360423620 rs1179591536	200	M>I		No	ClinGen gnomAD
rs1363110487 CA360423626	200	M>L		No	ClinGen gnomAD
rs1425567374 CA360423616	201	G>D		No	ClinGen gnomAD
rs1425567374 CA360423614	201	G>V		No	ClinGen gnomAD
CA360423575 rs1460180013	208	A>T		No	ClinGen gnomAD
rs866114394 CA122610582	208	A>V		No	ClinGen Ensembl
CA360423548 rs1404349468	212	A>E		No	ClinGen gnomAD
CA360423547 rs1404349468	212	A>G		No	ClinGen gnomAD
rs1039513477 CA122610581	212	A>T		No	ClinGen TOPMed gnomAD
rs1162864526 CA360423432	229	P>S		No	ClinGen gnomAD
rs1561698356 CA360423372 RCV000760934	237	Q>*		No	ClinGen ClinVar Ensembl dbSNP
RCV001008970 rs1581392920	243	P>missing		No	ClinVar dbSNP
CA3337255 rs763969325	243	P>A		No	ClinGen ExAC gnomAD
rs752349182 CA315907 RCV000188142	244	M>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA360423317 rs1240688412	245	N>S		No	ClinGen gnomAD
CA360423312 rs1175233907	246	L>V		No	ClinGen TOPMed
rs796052723 CA315895	248	M>T		No	ClinGen TOPMed
CA360423237 rs1399640142	257	V>L		No	ClinGen TOPMed
CA360423227 rs1268731100	258	L>H		No	ClinGen gnomAD
CA360423223 rs1347746132	259	I>T		No	ClinGen TOPMed
rs759108180 CA3337253	259	I>V		No	ClinGen ExAC TOPMed
rs1278522595 CA360423213	261	P>S		No	ClinGen TOPMed
rs766839744 CA3337251	266	T>M		No	ClinGen ExAC gnomAD
rs1761753278 RCV001172160	267	M>V		No	ClinVar dbSNP
CA360423133 rs1337373823	271	S>P		No	ClinGen TOPMed
rs1382265841 CA360423016	285	S>F		No	ClinGen gnomAD
CA3337224 rs745875924	286	Q>H		No	ClinGen ExAC gnomAD
CA16618220 RCV000481686 rs777826971	287	S>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA360423004 rs1158997480	288	A>T		No	ClinGen gnomAD
CA3337220 rs778660968	293	T>N		No	ClinGen ExAC gnomAD
CA3337218 rs753559873	295	V>L		No	ClinGen ExAC
CA3337217 rs765881880	296	V>A		No	ClinGen ExAC gnomAD
CA360422951 rs765881880	296	V>G		No	ClinGen ExAC gnomAD
rs1581339047 CA360422945	297	S>F		No	ClinGen Ensembl
CA3337215 COSM1159214 rs749895889 COSM218856 COSM218857	298	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs749895889 CA360422944	298	V>L		No	ClinGen ExAC gnomAD
rs768178049 CA3337214	300	T>A		No	ClinGen ExAC gnomAD
CA3337213 rs762386648	302	T>A		No	ClinGen ExAC gnomAD
rs1315101427 CA360422901	305	G>E		No	ClinGen gnomAD
rs786200981 RCV000153485	310	G>missing		No	ClinVar dbSNP
rs775791215 CA3337209	313	S>L		No	ClinGen ExAC gnomAD
RCV000486123 rs1064796969 CA16618219	314	A>G		No	ClinGen ClinVar Ensembl dbSNP
CA3337203 rs748106924	330	L>V		No	ClinGen ExAC TOPMed gnomAD
CA122608613 rs200887424	332	S>P		No	ClinGen TOPMed
rs778783316 CA3337202	339	A>T		No	ClinGen ExAC TOPMed gnomAD
rs797045703 RCV000193723 CA207404	341	A>T		No	ClinGen ClinVar dbSNP gnomAD
rs980341351 CA122608611	344	L>F		No	ClinGen TOPMed
rs748980354 CA3337200	346	S>*		No	ClinGen ExAC gnomAD
rs1431233073 CA360422612	349	G>S		No	ClinGen gnomAD
rs1490177097 CA360422563	355	L>Q		No	ClinGen gnomAD
rs1197579572 CA360422539	358	M>I		No	ClinGen gnomAD
rs17852408 CA122608609	359	P>Q		No	ClinGen Ensembl
rs1355343472 CA360422536	359	P>T		No	ClinGen TOPMed
rs1481007836 CA360422517	362	A>S		No	ClinGen gnomAD
CA360422493 rs1581321362 COSM3393700 RCV001002553 COSM3393702 COSM3393701 COSM3393699	365	Q>H	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA360422424 rs1487982052	374	L>I		No	ClinGen TOPMed
CA360422398 rs1194276851	377	S>I		No	ClinGen gnomAD
rs1462857323 CA360422395	378	S>T		No	ClinGen gnomAD
CA3337193 rs764636524	379	N>D		No	ClinGen ExAC gnomAD
rs1321876412 CA360422346	386	Q>K		No	ClinGen gnomAD
rs1191561734 CA360422336	387	S>N		No	ClinGen TOPMed
rs1064797057 RCV000479668 CA16618217	401	R>C		No	ClinGen ClinVar dbSNP gnomAD
rs1064797057 CA360422221	401	R>G		No	ClinGen gnomAD
rs1305718026 CA360422185	405	P>L		No	ClinGen gnomAD
CA3337191 rs765537349	406	S>A		No	ClinGen ExAC gnomAD
rs776785470 CA3337189	410	Q>E		No	ClinGen ExAC gnomAD
CA3337188 rs771034207 COSM240642	412	T>M	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA360422104 rs1403721275	414	H>Q		No	ClinGen TOPMed gnomAD
rs1172286190 CA360422109	414	H>Y		No	ClinGen TOPMed
rs545693893 CA3337187	415	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3337185 rs768570497	416	A>V		No	ClinGen ExAC
rs749145830 CA3337184	417	G>E		No	ClinGen ExAC gnomAD
rs779688828 CA3337183	424	L>V		No	ClinGen ExAC gnomAD
rs780925017 CA3337180	431	Y>*		No	ClinGen ExAC gnomAD
CA360421949 rs1345666452	434	S>N		No	ClinGen TOPMed
rs778488653 CA122608079	436	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1259504949 CA360421917	438	D>E		No	ClinGen gnomAD
rs1237249484 CA360421913	439	H>P		No	ClinGen gnomAD
CA3337175 rs753156153	447	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1320099771 CA360421850	448	G>E		No	ClinGen gnomAD
rs1351393780 CA360421845	449	L>F		No	ClinGen TOPMed
CA3337174 rs765543733	451	R>T		No	ClinGen ExAC
CA360421828 rs1382590951	452	P>A		No	ClinGen gnomAD
CA3337173 rs201684050	454	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3337172 rs186353882	455	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA360421811 rs1581204990	455	D>G		No	ClinGen Ensembl
CA315935 rs796052734	455	D>H		No	ClinGen Ensembl
CA122608076 rs796052734	455	D>N		No	ClinGen Ensembl
rs1385998887 CA360421801	456	E>D		No	ClinGen TOPMed gnomAD
rs1163142825 CA360421795	457	R>K		No	ClinGen gnomAD
RCV000600963 CA360421783 rs1554098520	459	S>G		No	ClinGen ClinVar Ensembl dbSNP
rs1581204463 CA360421771	460	P>L		No	ClinGen Ensembl
CA360421760 rs1194300256	462	V>A		No	ClinGen gnomAD
CA3337170 rs760804914	465	M>I		No	ClinGen ExAC gnomAD
CA3337171 rs766533792	465	M>L		No	ClinGen ExAC gnomAD
rs766533792 CA360421744	465	M>V		No	ClinGen ExAC gnomAD
rs1490696028 CA360421728	467	L>P		No	ClinGen TOPMed gnomAD
rs1244759936 CA360421725	468	S>P		No	ClinGen gnomAD
rs1244759936 CA360421726	468	S>T		No	ClinGen gnomAD
rs17856763 CA122608074	470	G>*		No	ClinGen Ensembl
rs1561641773 RCV000762148 CA360421696	472	A>E		No	ClinGen ClinVar Ensembl dbSNP
rs1271598402 CA360421691	473	T>P		No	ClinGen gnomAD
rs1227804681 CA360421686	474	T>R		No	ClinGen gnomAD

3 associated diseases with Q06413

[MIM: 604187]: Spastic paraplegia 10, autosomal dominant (SPG10)

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617235]: Myoclonus, intractable, neonatal (NEIMY)

An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617921]: Amyotrophic lateral sclerosis 25 (ALS25)

A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39. .

Without disease ID

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. . Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. . Note=The disease is caused by variants affecting the gene represented in this entry.
A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. . Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39. .

No regional properties for Q06413

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q06413

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, sarcoplasm
PANTHER Family	PTHR48019	SERUM RESPONSE FACTOR HOMOLOG
PANTHER Subfamily	PTHR48019:SF109	MYOCYTE-SPECIFIC ENHANCER FACTOR 2A
PANTHER Protein Class	MADS box transcription factor
PANTHER Pathway Category	p38 MAPK pathway MEF Oxidative stress response MEF-2

10 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
postsynapse	The part of a synapse that is part of the post-synaptic cell.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
sarcoplasm	The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum.

13 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
histone deacetylase binding	Binding to histone deacetylase.
minor groove of adenine-thymine-rich DNA binding	Binding to a DNA structure formed by the minor groove of adenine-thymine-rich DNA regions. Examples of proteins having this function are AT-rich interaction domain (ARID)-containing proteins.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.

85 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
B cell homeostasis	The process of regulating the proliferation and elimination of B cells such that the total number of B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.
B cell proliferation	The expansion of a B cell population by cell division. Follows B cell activation.
B cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
blood vessel development	The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood.
blood vessel remodeling	The reorganization or renovation of existing blood vessels.
cardiac ventricle formation	The developmental process pertaining to the initial formation of a cardiac ventricle from unspecified parts. A cardiac ventricle receives blood from a cardiac atrium and pumps it out of the heart.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell morphogenesis involved in neuron differentiation	The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron.
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
cellular response to fluid shear stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluid shear stress stimulus. Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to parathyroid hormone stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a parathyroid hormone stimulus.
cellular response to transforming growth factor beta stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
cellular response to trichostatin A	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a trichostatin A stimulus.
cellular response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
chondrocyte differentiation	The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage.
endochondral ossification	Replacement ossification wherein bone tissue replaces cartilage.
epithelial cell proliferation involved in renal tubule morphogenesis	Any epithelial cell proliferation that is involved in renal tubule morphogenesis.
excitatory postsynaptic potential	A process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.
germinal center formation	The process in which germinal centers form. A germinal center is a specialized microenvironment formed when activated B cells enter lymphoid follicles. Germinal centers are the foci for B cell proliferation and somatic hypermutation.
glomerulus morphogenesis	The process in which the anatomical structures of the glomerulus are generated and organized. The glomerulus is a capillary tuft surrounded by Bowman's capsule in nephrons of the vertebrate kidney.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
heart looping	The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.
humoral immune response	An immune response mediated through a body fluid.
learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
melanocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a melanocyte.
muscle cell fate determination	The cell fate determination process in which a cell becomes capable of differentiating autonomously into a muscle cell regardless of its environment; upon determination, the cell fate cannot be reversed.
muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
myotube differentiation	The process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual myotubes can fuse to form bigger myotubes and start to contract. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.
negative regulation of blood vessel endothelial cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of ossification	Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of vascular associated smooth muscle cell migration	Any process that stops, prevents or reduces the frequency, rate or extent of vascular associated smooth muscle cell migration.
negative regulation of vascular associated smooth muscle cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation.
negative regulation of vascular endothelial cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial cell proliferation.
nephron tubule epithelial cell differentiation	The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells of the nephron tubule as it progresses from its formation to the mature state.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neural crest cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
outflow tract morphogenesis	The process in which the anatomical structures of the outflow tract are generated and organized. The outflow tract is the portion of the heart through which blood flows into the arteries.
platelet formation	The process in which platelets bud from long processes extended by megakaryocytes.
positive regulation of alkaline phosphatase activity	Any process that increases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum.
positive regulation of B cell proliferation	Any process that activates or increases the rate or extent of B cell proliferation.
positive regulation of behavioral fear response	Any process that activates or increases the frequency, rate or extent of behavioral fear response.
positive regulation of bone mineralization	Any process that activates or increases the frequency, rate or extent of bone mineralization.
positive regulation of cardiac muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation.
positive regulation of cardiac muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of macrophage apoptotic process	Any process that activates or increases the frequency, rate or extent of macrophage apoptotic process.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of myoblast differentiation	Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.
positive regulation of osteoblast differentiation	Any process that activates or increases the frequency, rate or extent of osteoblast differentiation.
positive regulation of skeletal muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of skeletal muscle cell differentiation.
positive regulation of skeletal muscle tissue development	Any process that activates, maintains or increases the rate of skeletal muscle tissue development.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
primary heart field specification	The process that results in the delineation of a specific region of the lateral mesoderm into the area which will form the primary beating heart tube. In mammals the primary heart field gives rise to the left ventricle.
regulation of AMPA receptor activity	Any process that modulates the frequency, rate or extent of AMPA selective glutamate receptor activity.
regulation of dendritic spine development	Any process that modulates the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure.
regulation of germinal center formation	Any process that modulates the frequency, rate, or extent of germinal center formation.
regulation of megakaryocyte differentiation	Any process that modulates the frequency, rate or extent of megakaryocyte differentiation.
regulation of neuron apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process in neurons.
regulation of neurotransmitter secretion	Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell.
regulation of NMDA receptor activity	Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity.
regulation of synapse assembly	Any process that modulates the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
regulation of synaptic activity	Any process that modulates the frequency, rate or extent of synaptic activity, the controlled release of neurotransmitters into the synaptic cleft and their subsequent detection by a postsynaptic cell.
regulation of synaptic plasticity	A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
regulation of synaptic transmission, glutamatergic	Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of transcription, DNA-templated	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
renal tubule morphogenesis	The process in which the renal tubule is generated by specification of cell fate, through the maintenance of cell polarity, regulated cell proliferation and morphogenetic cell rearrangements, shape changes and growth. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis.
response to ischemia	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
secondary heart field specification	The process that results in the delineation of a specific region of the lateral mesoderm into the area which will form the majority of the mesodermal component of the right ventricle, arterial pole (outflow tract) and venous pole (inflow tract).
sinoatrial valve morphogenesis	The process in which the structure of the sinoatrial valve is generated and organized.
skeletal muscle tissue development	The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers.
smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary.
ventricular cardiac muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a ventricular cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. The ventricle is the part of the heart that pumps blood out of the organ.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VDZ3	MEF2A	Myocyte-specific enhancer factor 2A	Bos taurus (Bovine)	SS
Q9W6U8	MEF2A	Myocyte-specific enhancer factor 2A	Gallus gallus (Chicken)	SS
Q02078	MEF2A	Myocyte-specific enhancer factor 2A	Homo sapiens (Human)	SS
Q60929	Mef2a	Myocyte-specific enhancer factor 2A	Mus musculus (Mouse)	SS
Q8CFN5	Mef2c	Myocyte-specific enhancer factor 2C	Mus musculus (Mouse)	SS
A2ICN5	MEF2A	Myocyte-specific enhancer factor 2A	Sus scrofa (Pig)	SS
A4UTP7	MEF2C	Myocyte-specific enhancer factor 2C	Sus scrofa (Pig)	SS
Q2MJT0	Mef2a	Myocyte-specific enhancer factor 2A	Rattus norvegicus (Rat)	SS
A0A096MJY4	Mef2c	Myocyte-specific enhancer factor 2C	Rattus norvegicus (Rat)	SS
Q40702	MADS2	MADS-box transcription factor 2	Oryza sativa subsp japonica (Rice)	PR
Q5K4R0	MADS47	MADS-box transcription factor 47	Oryza sativa subsp japonica (Rice)	PR
Q655V4	MADS30	MADS-box transcription factor 30	Oryza sativa subsp japonica (Rice)	PR
P35632	AP3	Floral homeotic protein APETALA 3	Arabidopsis thaliana (Mouse-ear cress)	PR
P29383	AGL3	Agamous-like MADS-box protein AGL3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q683D7	MAF5	Protein MADS AFFECTING FLOWERING 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q1PFA4	AGL30	Agamous-like MADS-box protein AGL30	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FUY6	J	MADS-box protein JOINTLESS	Solanum lycopersicum (Tomato) (Lycopersicon esculentum)	PR

10	20	30	40	50	60
MGRKKIQITR	IMDERNRQVT	FTKRKFGLMK	KAYELSVLCD	CEIALIIFNS	TNKLFQYAST
70	80	90	100	110	120
DMDKVLLKYT	EYNEPHESRT	NSDIVETLRK	KGLNGCDSPD	PDADDSVGHS	PESEDKYRKI
130	140	150	160	170	180
NEDIDLMISR	QRLCAVPPPN	FEMPVSIPVS	SHNSLVYSNP	VSSLGNPNLL	PLAHPSLQRN
190	200	210	220	230	240
SMSPGVTHRP	PSAGNTGGLM	GGDLTSGAGT	SAGNGYGNPR	NSPGLLVSPG	NLNKNMQAKS
250	260	270	280	290	300
PPPMNLGMNN	RKPDLRVLIP	PGSKNTMPSV	SEDVDLLLNQ	RINNSQSAQS	LATPVVSVAT
310	320	330	340	350	360
PTLPGQGMGG	YPSAISTTYG	TEYSLSSADL	SSLSGFNTAS	ALHLGSVTGW	QQQHLHNMPP
370	380	390	400	410	420
SALSQLGACT	STHLSQSSNL	SLPSTQSLNI	KSEPVSPPRD	RTTTPSRYPQ	HTRHEAGRSP
430	440	450	460	470
VDSLSSCSSS	YDGSDREDHR	NEFHSPIGLT	RPSPDERESP	SVKRMRLSEG	WAT