CleftGeneDB-Search

Gene: MSTN

Basic information

Tag	Content
Uniprot ID	O14793; A1C2J7; A1C2K0; Q6B0H2;
Entrez ID	2660
Genbank protein ID	AAH74757.2; ABI48421.1; AAB86694.1; AAC96327.1; ABI48419.1; ABI48422.1;
Genbank nucleotide ID	NM_005259.2
Ensembl protein ID	ENSP00000260950
Ensembl nucleotide ID	ENSG00000138379
Gene name	Growth/differentiation factor 8
Gene symbol	MSTN
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts specifically as a negative regulator of skeletal muscle growth.
Sequence	MQKLQLCVYI YLFMLIVAGP VDLNENSEQK ENVEKEGLCN ACTWRQNTKS SRIEAIKIQI 60 LSKLRLETAP NISKDVIRQL LPKAPPLREL IDQYDVQRDD SSDGSLEDDD YHATTETIIT 120 MPTESDFLMQ VDGKPKCCFF KFSSKIQYNK VVKAQLWIYL RPVETPTTVF VQILRLIKPM 180 KDGTRYTGIR SLKLDMNPGT GIWQSIDVKT VLQNWLKQPE SNLGIEIKAL DENGHDLAVT 240 FPGPGEDGLN PFLEVKVTDT PKRSRRDFGL DCDEHSTESR CCRYPLTVDF EAFGWDWIIA 300 PKRYKANYCS GECEFVFLQK YPHTHLVHQA NPRGSAGPCC TPTKMSPINM LYFNGKEQII 360 YGKIPAMVVD RCGCS 375

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
5F3B
5F3H
5NTU
5NXS
6UMX
5F3B
5F3H

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MSTN	281187	O18836		Bos taurus	Prediction	More>>
1:1 ortholog	MSTN	403433	Q6UKZ8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MSTN	100860887	Q6T5B8		Capra hircus	Prediction	More>>
1:1 ortholog	MSTN		F6S5D9		Equus caballus	Prediction	More>>
1:1 ortholog	MSTN	2660	O14793		Homo sapiens	Prediction	More>>
1:1 ortholog	Mstn	17700	O08689	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MSTN	470605	A1C2V0		Pan troglodytes	Prediction	More>>
1:1 ortholog	MSTN		O18831		Sus scrofa	Prediction	More>>
1:1 ortholog	mstn	100125998	A7LH84		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Mstn	29152	O35312		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mstnb	798441	O42222		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Gln2Leu	missense variant	-	NC_000002.12:g.190062592T>A	NCI-TCGA
rs1412008383	p.Gln2Arg	missense variant	-	NC_000002.12:g.190062592T>C	gnomAD
NCI-TCGA novel	p.Lys3AsnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.190062588T>-	NCI-TCGA
rs1273435194	p.Lys3Thr	missense variant	-	NC_000002.12:g.190062589T>G	gnomAD
rs372790208	p.Val8Ile	missense variant	-	NC_000002.12:g.190062575C>T	ESP,ExAC,gnomAD
COSM3971933	p.Ile10Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062569T>G	NCI-TCGA Cosmic
rs1405298432	p.Ile10Val	missense variant	-	NC_000002.12:g.190062569T>C	gnomAD
rs750361333	p.Tyr11His	missense variant	-	NC_000002.12:g.190062566A>G	ExAC,gnomAD
rs1327091416	p.Leu12Pro	missense variant	-	NC_000002.12:g.190062562A>G	gnomAD
rs889150581	p.Phe13Val	missense variant	-	NC_000002.12:g.190062560A>C	TOPMed,gnomAD
rs757078479	p.Met14Ile	missense variant	-	NC_000002.12:g.190062555C>G	ExAC,gnomAD
rs767299841	p.Met14Thr	missense variant	-	NC_000002.12:g.190062556A>G	ExAC,gnomAD
rs1397224531	p.Met14Val	missense variant	-	NC_000002.12:g.190062557T>C	gnomAD
rs200820992	p.Ile16Thr	missense variant	-	NC_000002.12:g.190062550A>G	ExAC,TOPMed,gnomAD
rs369459186	p.Ala18Ser	missense variant	-	NC_000002.12:g.190062545C>A	ESP,ExAC,gnomAD
rs775178188	p.Gly19Asp	missense variant	-	NC_000002.12:g.190062541C>T	ExAC,TOPMed,gnomAD
rs1201999957	p.Gly19Arg	missense variant	-	NC_000002.12:g.190062542C>G	gnomAD
rs1201999957	p.Gly19Ser	missense variant	-	NC_000002.12:g.190062542C>T	gnomAD
rs919497329	p.Val21Met	missense variant	-	NC_000002.12:g.190062536C>T	TOPMed,gnomAD
rs375435525	p.Glu25Lys	missense variant	-	NC_000002.12:g.190062524C>T	ESP,ExAC,gnomAD
rs761141037	p.Asn26Asp	missense variant	-	NC_000002.12:g.190062521T>C	ExAC,TOPMed,gnomAD
rs1349574007	p.Asn26Ser	missense variant	-	NC_000002.12:g.190062520T>C	TOPMed,gnomAD
rs761141037	p.Asn26His	missense variant	-	NC_000002.12:g.190062521T>G	ExAC,TOPMed,gnomAD
rs1444614625	p.Ser27Arg	missense variant	-	NC_000002.12:g.190062516A>T	gnomAD
rs533241314	p.Glu28Lys	missense variant	-	NC_000002.12:g.190062515C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln29Arg	missense variant	-	NC_000002.12:g.190062511T>C	NCI-TCGA
rs374273494	p.Gln29Lys	missense variant	-	NC_000002.12:g.190062512G>T	ESP,ExAC,TOPMed,gnomAD
rs1408408724	p.Lys30Asn	missense variant	-	NC_000002.12:g.190062507T>G	gnomAD
rs144348365	p.Lys30Thr	missense variant	-	NC_000002.12:g.190062508T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn32Lys	missense variant	-	NC_000002.12:g.190062501A>C	NCI-TCGA
NCI-TCGA novel	p.Glu36ArgPheSerTerUnk	frameshift	-	NC_000002.12:g.190062491_190062492insT	NCI-TCGA
rs1457241873	p.Glu36Gln	missense variant	-	NC_000002.12:g.190062491C>G	gnomAD
rs562815480	p.Asn40Lys	missense variant	-	NC_000002.12:g.190062477A>T	1000Genomes,ExAC,gnomAD
rs1258022991	p.Asn40Asp	missense variant	-	NC_000002.12:g.190062479T>C	TOPMed
rs1483694139	p.Cys42Ser	missense variant	-	NC_000002.12:g.190062473A>T	TOPMed
rs768909803	p.Thr43Ile	missense variant	-	NC_000002.12:g.190062469G>A	ExAC,gnomAD
rs1182619306	p.Trp44Cys	missense variant	-	NC_000002.12:g.190062465C>A	gnomAD
rs749509789	p.Trp44Arg	missense variant	-	NC_000002.12:g.190062467A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg45Ile	missense variant	-	NC_000002.12:g.190062463C>A	NCI-TCGA
rs780167334	p.Arg45Lys	missense variant	-	NC_000002.12:g.190062463C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln46His	missense variant	-	NC_000002.12:g.190062459T>G	NCI-TCGA
COSM3990926	p.Thr48Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062455T>C	NCI-TCGA Cosmic
rs1264461768	p.Thr48Ile	missense variant	-	NC_000002.12:g.190062454G>A	gnomAD
NCI-TCGA novel	p.Lys49Asn	missense variant	-	NC_000002.12:g.190062450T>G	NCI-TCGA
rs149462136	p.Lys49Glu	missense variant	-	NC_000002.12:g.190062452T>C	ESP,ExAC,gnomAD
COSM3838155	p.Ser51Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.190062445G>C	NCI-TCGA Cosmic
rs781220890	p.Ser51Leu	missense variant	-	NC_000002.12:g.190062445G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg52Gly	missense variant	-	NC_000002.12:g.190062443T>C	NCI-TCGA
COSM1215622	p.Arg52Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062442C>A	NCI-TCGA Cosmic
rs757093012	p.Arg52Lys	missense variant	-	NC_000002.12:g.190062442C>T	ExAC,TOPMed
rs751448366	p.Ile53Lys	missense variant	-	NC_000002.12:g.190062439A>T	ExAC,gnomAD
rs763949397	p.Glu54Lys	missense variant	-	NC_000002.12:g.190062437C>T	ExAC,gnomAD
rs763949397	p.Glu54Gln	missense variant	-	NC_000002.12:g.190062437C>G	ExAC,gnomAD
RCV000311796	p.Ala55Thr	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190062434C>T	ClinVar
rs1805085	p.Ala55Thr	missense variant	-	NC_000002.12:g.190062434C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1805085	p.Ala55Thr	missense variant	-	NC_000002.12:g.190062434C>T	UniProt,dbSNP
VAR_014475	p.Ala55Thr	missense variant	-	NC_000002.12:g.190062434C>T	UniProt
RCV000055913	p.Ala55Thr	missense variant	Muscle hypertrophy (MSLHP)	NC_000002.12:g.190062434C>T	ClinVar
COSM718807	p.Ile56Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062429A>C	NCI-TCGA Cosmic
rs1385082025	p.Ile56Thr	missense variant	-	NC_000002.12:g.190062430A>G	TOPMed,gnomAD
rs1385082025	p.Ile56Ser	missense variant	-	NC_000002.12:g.190062430A>C	TOPMed,gnomAD
rs764734901	p.Gln59Arg	missense variant	-	NC_000002.12:g.190062421T>C	ExAC,TOPMed,gnomAD
rs1428435597	p.Gln59Ter	stop gained	-	NC_000002.12:g.190062422G>A	TOPMed
rs1450639427	p.Leu64Phe	missense variant	-	NC_000002.12:g.190062407G>A	TOPMed
rs753241714	p.Arg65Cys	missense variant	-	NC_000002.12:g.190062404G>A	ExAC,gnomAD
rs34094280	p.Arg65His	missense variant	-	NC_000002.12:g.190062403C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762279211	p.Glu67Gln	missense variant	-	NC_000002.12:g.190062398C>G	ExAC,gnomAD
rs762279211	p.Glu67Lys	missense variant	-	NC_000002.12:g.190062398C>T	ExAC,gnomAD
rs1435139962	p.Pro70Arg	missense variant	-	NC_000002.12:g.190062388G>C	TOPMed
COSM1014090	p.Ser73Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062379C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys74Ile	missense variant	-	NC_000002.12:g.190062376T>A	NCI-TCGA
rs768995951	p.Lys74Arg	missense variant	-	NC_000002.12:g.190062376T>C	ExAC,gnomAD
rs1345198829	p.IleArgGln77IleArgGlnTerAspUnk	stop gained	-	NC_000002.12:g.190062368_190062369insTGTCTTAT	TOPMed,gnomAD
rs1022415104	p.Ile77Thr	missense variant	-	NC_000002.12:g.190062367A>G	TOPMed
rs1244428201	p.Ile77Val	missense variant	-	NC_000002.12:g.190062368T>C	gnomAD
rs1485279699	p.Gln79Leu	missense variant	-	NC_000002.12:g.190062361T>A	gnomAD
rs769867063	p.Leu80Val	missense variant	-	NC_000002.12:g.190062359G>C	ExAC,gnomAD
rs956623699	p.Pro82Ser	missense variant	-	NC_000002.12:g.190062353G>A	TOPMed,gnomAD
rs573037946	p.Ala84Gly	missense variant	-	NC_000002.12:g.190062346G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro85Ser	missense variant	-	NC_000002.12:g.190062344G>A	NCI-TCGA
rs1290851653	p.Pro86Leu	missense variant	-	NC_000002.12:g.190062340G>A	gnomAD
rs1361926213	p.Leu87Phe	missense variant	-	NC_000002.12:g.190062338G>A	TOPMed,gnomAD
rs138343163	p.Arg88Gln	missense variant	-	NC_000002.12:g.190062334C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1315783994	p.Arg88Trp	missense variant	-	NC_000002.12:g.190062335G>A	TOPMed,gnomAD
RCV000762305	p.Arg88Gln	missense variant	-	NC_000002.12:g.190062334C>T	ClinVar
rs1359981704	p.Glu89Lys	missense variant	-	NC_000002.12:g.190062332C>T	gnomAD
rs1291084070	p.Ile91Met	missense variant	-	NC_000002.12:g.190062324A>C	gnomAD
rs746936791	p.Ile91Thr	missense variant	-	NC_000002.12:g.190062325A>G	ExAC,TOPMed
rs1448196193	p.Tyr94Cys	missense variant	-	NC_000002.12:g.190062316T>C	TOPMed
rs1349656684	p.Val96Ala	missense variant	-	NC_000002.12:g.190062310A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Arg98Met	missense variant	-	NC_000002.12:g.190062304C>A	NCI-TCGA
rs758277625	p.Arg98Ser	missense variant	-	NC_000002.12:g.190062303C>G	ExAC,TOPMed,gnomAD
rs752470300	p.Asp99Gly	missense variant	-	NC_000002.12:g.190062301T>C	ExAC,gnomAD
rs1334290595	p.Asp100His	missense variant	-	NC_000002.12:g.190062299C>G	gnomAD
rs34191156	p.Ser102Arg	missense variant	-	NC_000002.12:g.190062291G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs575523122	p.Asp103Asn	missense variant	-	NC_000002.12:g.190062290C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1188202867	p.Gly104Ser	missense variant	-	NC_000002.12:g.190062287C>T	gnomAD
rs762366961	p.Leu106Phe	missense variant	-	NC_000002.12:g.190062279C>G	ExAC,gnomAD
COSM1565198	p.Glu107Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062278C>G	NCI-TCGA Cosmic
rs768872289	p.Glu107GluAsnTerIleSerTerCysValSerUnk	stop gained	-	NC_000002.12:g.190062277_190062278insACTAACACATTAAGATATTTAATTTT	ExAC
rs747305835	p.Asp108GluGlnTerUnk	stop gained	-	NC_000002.12:g.190062274_190062275insTATTGTT	ExAC
rs369218409	p.Asp109Glu	missense variant	-	NC_000002.12:g.190062270G>T	ExAC,TOPMed,gnomAD
rs371576724	p.Asp110Asn	missense variant	-	NC_000002.12:g.190062269C>T	ESP,ExAC,TOPMed,gnomAD
rs770103165	p.Tyr111His	missense variant	-	NC_000002.12:g.190062266A>G	ExAC,gnomAD
rs1428524691	p.Tyr111Cys	missense variant	-	NC_000002.12:g.190062265T>C	TOPMed,gnomAD
rs759643603	p.His112Arg	missense variant	-	NC_000002.12:g.190062262T>C	ExAC,gnomAD
rs1055681318	p.Ala113Thr	missense variant	-	NC_000002.12:g.190062260C>T	gnomAD
rs1055681318	p.Ala113Pro	missense variant	-	NC_000002.12:g.190062260C>G	gnomAD
rs771117616	p.Thr114Ala	missense variant	-	NC_000002.12:g.190062257T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr115Ser	missense variant	-	NC_000002.12:g.190062254T>A	NCI-TCGA
rs747024902	p.Thr115Ala	missense variant	-	NC_000002.12:g.190062254T>C	ExAC,TOPMed,gnomAD
rs535776509	p.Thr115Met	missense variant	-	NC_000002.12:g.190062253G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1303314194	p.Thr117Arg	missense variant	-	NC_000002.12:g.190062247G>C	gnomAD
NCI-TCGA novel	p.Ile118Ser	missense variant	-	NC_000002.12:g.190062244A>C	NCI-TCGA
rs772090278	p.Met121Thr	missense variant	-	NC_000002.12:g.190062235A>G	ExAC,TOPMed,gnomAD
rs1036533067	p.Pro122Thr	missense variant	-	NC_000002.12:g.190062233G>T	TOPMed
NCI-TCGA novel	p.Thr123Ala	missense variant	-	NC_000002.12:g.190062230T>C	NCI-TCGA
COSM1306233	p.Glu124Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062227C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser125Tyr	missense variant	-	NC_000002.12:g.190060435G>T	NCI-TCGA
rs1271356568	p.Phe127Leu	missense variant	-	NC_000002.12:g.190060430A>G	TOPMed
rs1180881023	p.Leu128Ile	missense variant	-	NC_000002.12:g.190060427G>T	gnomAD
rs142195885	p.Met129Thr	missense variant	-	NC_000002.12:g.190060423A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142195885	p.Met129Arg	missense variant	-	NC_000002.12:g.190060423A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000403660	p.Met129Arg	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060423A>C	ClinVar
rs1252874181	p.Gln130Ter	stop gained	-	NC_000002.12:g.190060421G>A	gnomAD
rs760865305	p.Val131Ala	missense variant	-	NC_000002.12:g.190060417A>G	ExAC,gnomAD
rs1460879225	p.Asp132Val	missense variant	-	NC_000002.12:g.190060414T>A	gnomAD
COSM3575578	p.Gly133Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060412C>T	NCI-TCGA Cosmic
rs748033945	p.Lys136Arg	missense variant	-	NC_000002.12:g.190060402T>C	ExAC,gnomAD
rs772180319	p.Lys136Gln	missense variant	-	NC_000002.12:g.190060403T>G	ExAC
NCI-TCGA novel	p.Cys137PhePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.190060399C>-	NCI-TCGA
rs749046927	p.Cys138Phe	missense variant	-	NC_000002.12:g.190060396C>A	ExAC,gnomAD
COSM3896232	p.Phe142Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060384A>C	NCI-TCGA Cosmic
rs1447066367	p.Ser143Thr	missense variant	-	NC_000002.12:g.190060381C>G	gnomAD
rs528391865	p.Ser144Phe	missense variant	-	NC_000002.12:g.190060378G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile146Thr	missense variant	-	NC_000002.12:g.190060372A>G	NCI-TCGA
rs780648804	p.Tyr148Cys	missense variant	-	NC_000002.12:g.190060366T>C	ExAC,TOPMed,gnomAD
rs1454487944	p.Asn149His	missense variant	-	NC_000002.12:g.190060364T>G	gnomAD
NCI-TCGA novel	p.Lys153PhePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.190060352_190060353insGAAA	NCI-TCGA
RCV000341277	p.Lys153Arg	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060351T>C	ClinVar
rs1805086	p.Lys153Arg	missense variant	-	NC_000002.12:g.190060351T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1805086	p.Lys153Arg	missense variant	-	NC_000002.12:g.190060351T>C	UniProt,dbSNP
VAR_014476	p.Lys153Arg	missense variant	-	NC_000002.12:g.190060351T>C	UniProt
COSM4089689	p.Ala154Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060348G>A	NCI-TCGA Cosmic
rs765715434	p.Ala154Thr	missense variant	-	NC_000002.12:g.190060349C>T	ExAC,TOPMed,gnomAD
RCV000283902	p.Leu156Ile	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060343G>T	ClinVar
rs35493945	p.Leu156Ile	missense variant	-	NC_000002.12:g.190060343G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1444304104	p.Trp157Cys	missense variant	-	NC_000002.12:g.190060338C>G	gnomAD
rs1241336527	p.Ile158Leu	missense variant	-	NC_000002.12:g.190060337T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr159His	missense variant	-	NC_000002.12:g.190060334A>G	NCI-TCGA
rs368592643	p.Arg161Ser	missense variant	-	NC_000002.12:g.190060326T>A	ESP,ExAC,TOPMed,gnomAD
rs766727311	p.Arg161Ile	missense variant	-	NC_000002.12:g.190060327C>A	ExAC,TOPMed,gnomAD
rs1356908296	p.Val163Ile	missense variant	-	NC_000002.12:g.190060322C>T	TOPMed
NCI-TCGA novel	p.Glu164Gly	missense variant	-	NC_000002.12:g.190060318T>C	NCI-TCGA
RCV000376122	p.Glu164Lys	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060319C>T	ClinVar
rs35781413	p.Glu164Lys	missense variant	-	NC_000002.12:g.190060319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1490125045	p.Thr165Ala	missense variant	-	NC_000002.12:g.190060316T>C	TOPMed
rs183476664	p.Pro166Ser	missense variant	-	NC_000002.12:g.190060313G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138300785	p.Thr167Ala	missense variant	-	NC_000002.12:g.190060310T>C	ESP,TOPMed,gnomAD
rs1382580109	p.Thr168Ile	missense variant	-	NC_000002.12:g.190060306G>A	gnomAD
rs1317477204	p.Val171Leu	missense variant	-	NC_000002.12:g.190060298C>A	gnomAD
rs775242311	p.Gln172Arg	missense variant	-	NC_000002.12:g.190060294T>C	ExAC,gnomAD
rs200908904	p.Gln172His	missense variant	-	NC_000002.12:g.190060293T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200908904	p.Gln172His	missense variant	-	NC_000002.12:g.190060293T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM718808	p.Leu174Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060289G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu176Phe	missense variant	-	NC_000002.12:g.190060283G>A	NCI-TCGA
rs756728994	p.Ile177Met	missense variant	-	NC_000002.12:g.190060278G>C	ExAC,gnomAD
rs368267720	p.Ile177Thr	missense variant	-	NC_000002.12:g.190060279A>G	ESP,TOPMed,gnomAD
rs191779769	p.Ile177Leu	missense variant	-	NC_000002.12:g.190060280T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1364168928	p.Lys178Thr	missense variant	-	NC_000002.12:g.190060276T>G	TOPMed
rs200189586	p.Met180Val	missense variant	-	NC_000002.12:g.190060271T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs141411451	p.Met180Thr	missense variant	-	NC_000002.12:g.190060270A>G	ESP,ExAC,gnomAD
rs1473134460	p.Asp182Gly	missense variant	-	NC_000002.12:g.190060264T>C	gnomAD
rs749141789	p.Gly183Ser	missense variant	-	NC_000002.12:g.190060262C>T	ExAC,gnomAD
rs1449289628	p.Gly183Val	missense variant	-	NC_000002.12:g.190060261C>A	gnomAD
rs749141789	p.Gly183Arg	missense variant	-	NC_000002.12:g.190060262C>G	ExAC,gnomAD
RCV000319193	p.Thr184Ile	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060258G>A	ClinVar
rs369290669	p.Thr184Ile	missense variant	-	NC_000002.12:g.190060258G>A	ESP,ExAC,TOPMed,gnomAD
rs370978355	p.Thr187Asn	missense variant	-	NC_000002.12:g.190060249G>T	ESP,ExAC,TOPMed,gnomAD
COSM4089687	p.Ile189Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060244T>A	NCI-TCGA Cosmic
rs761832176	p.Arg190Gln	missense variant	-	NC_000002.12:g.190060240C>T	ExAC,TOPMed,gnomAD
rs761832176	p.Arg190Leu	missense variant	-	NC_000002.12:g.190060240C>A	ExAC,TOPMed,gnomAD
rs930314905	p.Asp195Tyr	missense variant	-	NC_000002.12:g.190060226C>A	TOPMed,gnomAD
rs930314905	p.Asp195His	missense variant	-	NC_000002.12:g.190060226C>G	TOPMed,gnomAD
rs1278803357	p.Asp195Gly	missense variant	-	NC_000002.12:g.190060225T>C	gnomAD
rs541715082	p.Met196Leu	missense variant	-	NC_000002.12:g.190060223T>A	1000Genomes,ExAC,gnomAD
rs541715082	p.Met196Val	missense variant	-	NC_000002.12:g.190060223T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asn197His	missense variant	-	NC_000002.12:g.190060220T>G	NCI-TCGA
rs1363501902	p.Asn197Thr	missense variant	-	NC_000002.12:g.190060219T>G	gnomAD
rs368949692	p.Pro198Ala	missense variant	-	NC_000002.12:g.190060217G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly199Cys	missense variant	-	NC_000002.12:g.190060214C>A	NCI-TCGA
rs1395843757	p.Gly199Ser	missense variant	-	NC_000002.12:g.190060214C>T	gnomAD
rs776267734	p.Gly201Asp	missense variant	-	NC_000002.12:g.190060207C>T	ExAC,gnomAD
NCI-TCGA novel	p.Trp203Ter	stop gained	-	NC_000002.12:g.190060200C>T	NCI-TCGA
COSM442013	p.Ser205Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060196T>G	NCI-TCGA Cosmic
rs577625650	p.Ser205Ile	missense variant	-	NC_000002.12:g.190060195C>A	1000Genomes,ExAC,gnomAD
rs912777007	p.Ile206Thr	missense variant	-	NC_000002.12:g.190060192A>G	TOPMed
COSM1014087	p.Asp207Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060190C>A	NCI-TCGA Cosmic
rs746519464	p.Asp207His	missense variant	-	NC_000002.12:g.190060190C>G	ExAC,gnomAD
rs769113436	p.Thr210Ile	missense variant	-	NC_000002.12:g.190060180G>A	ExAC,TOPMed
rs1271593255	p.Val211Leu	missense variant	-	NC_000002.12:g.190060178C>G	TOPMed,gnomAD
rs1200538039	p.Val211Glu	missense variant	-	NC_000002.12:g.190060177A>T	gnomAD
rs1271593255	p.Val211Leu	missense variant	-	NC_000002.12:g.190060178C>A	TOPMed,gnomAD
rs1200538039	p.Val211Ala	missense variant	-	NC_000002.12:g.190060177A>G	gnomAD
NCI-TCGA novel	p.Leu212AlaPheSerTerUnk	frameshift	-	NC_000002.12:g.190060178_190060179CT>-	NCI-TCGA
rs749802472	p.Leu212Met	missense variant	-	NC_000002.12:g.190060175A>T	ExAC,gnomAD
rs1271648192	p.Gln213Ter	stop gained	-	NC_000002.12:g.190060172G>A	gnomAD
rs1340892305	p.Leu216Val	missense variant	-	NC_000002.12:g.190060163G>C	gnomAD
rs1222830081	p.Gln218Glu	missense variant	-	NC_000002.12:g.190060157G>C	gnomAD
COSM1482567	p.Pro219Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060153G>A	NCI-TCGA Cosmic
rs756553031	p.Asn222Ser	missense variant	-	NC_000002.12:g.190060144T>C	ExAC,gnomAD
COSM282896	p.Gly224Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060139C>A	NCI-TCGA Cosmic
rs1285022537	p.Gly224Val	missense variant	-	NC_000002.12:g.190060138C>A	TOPMed,gnomAD
rs1186025207	p.Gly224Ser	missense variant	-	NC_000002.12:g.190060139C>T	TOPMed
RCV000280530	p.Ile225Thr	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060135A>G	ClinVar
rs143242500	p.Ile225Thr	missense variant	-	NC_000002.12:g.190060135A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750779494	p.Ile225Val	missense variant	-	NC_000002.12:g.190060136T>C	ExAC,TOPMed,gnomAD
rs1176249126	p.His235Arg	missense variant	-	NC_000002.12:g.190060105T>C	gnomAD
rs764230030	p.Asp236Val	missense variant	-	NC_000002.12:g.190060102T>A	ExAC,TOPMed,gnomAD
rs764230030	p.Asp236Gly	missense variant	-	NC_000002.12:g.190060102T>C	ExAC,TOPMed,gnomAD
rs1431878218	p.Leu237Ile	missense variant	-	NC_000002.12:g.190060100G>T	TOPMed,gnomAD
rs1431878218	p.Leu237Phe	missense variant	-	NC_000002.12:g.190060100G>A	TOPMed,gnomAD
rs188199560	p.Ala238Val	missense variant	-	NC_000002.12:g.190060096G>A	1000Genomes,ESP,TOPMed,gnomAD
rs148890508	p.Ala238Thr	missense variant	-	NC_000002.12:g.190060097C>T	ESP,ExAC,gnomAD
rs765088834	p.Thr240Asn	missense variant	-	NC_000002.12:g.190060090G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe241Leu	missense variant	-	NC_000002.12:g.190060086G>T	NCI-TCGA
rs776358005	p.Phe241Leu	missense variant	-	NC_000002.12:g.190060088A>G	ExAC,gnomAD
rs376218617	p.Pro242Ser	missense variant	-	NC_000002.12:g.190060085G>A	ESP
COSM4918536	p.Gly243Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060082C>T	NCI-TCGA Cosmic
rs770535740	p.Pro244Ala	missense variant	-	NC_000002.12:g.190060079G>C	ExAC,gnomAD
rs934040293	p.Asp247Asn	missense variant	-	NC_000002.12:g.190060070C>T	TOPMed,gnomAD
rs142198675	p.Leu249Pro	missense variant	-	NC_000002.12:g.190060063A>G	ESP,ExAC,TOPMed,gnomAD
rs773978578	p.Asn250Asp	missense variant	-	NC_000002.12:g.190057638T>C	ExAC,gnomAD
rs567560486	p.Pro251Leu	missense variant	-	NC_000002.12:g.190057634G>A	1000Genomes,ExAC,gnomAD
rs1380486924	p.Phe252Leu	missense variant	-	NC_000002.12:g.190057632A>G	gnomAD
rs776915480	p.Lys256Met	missense variant	-	NC_000002.12:g.190057619T>A	ExAC,gnomAD
rs771339825	p.Val257Leu	missense variant	-	NC_000002.12:g.190057617C>A	ExAC,gnomAD
rs938778820	p.Asp259His	missense variant	-	NC_000002.12:g.190057611C>G	TOPMed
COSM3575575	p.Pro261Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057604G>A	NCI-TCGA Cosmic
rs747269695	p.Pro261Thr	missense variant	-	NC_000002.12:g.190057605G>T	ExAC,gnomAD
rs747269695	p.Pro261Ser	missense variant	-	NC_000002.12:g.190057605G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg263LysPheSerTerUnk	frameshift	-	NC_000002.12:g.190057598_190057599insT	NCI-TCGA
NCI-TCGA novel	p.Arg263AspPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.190057599T>-	NCI-TCGA
NCI-TCGA novel	p.Arg263Lys	missense variant	-	NC_000002.12:g.190057598C>T	NCI-TCGA
rs778083631	p.Arg265Lys	missense variant	-	NC_000002.12:g.190057592C>T	ExAC,gnomAD
rs1390302339	p.Arg266Gly	missense variant	-	NC_000002.12:g.190057590T>C	TOPMed,gnomAD
rs748274574	p.Gly269Cys	missense variant	-	NC_000002.12:g.190057581C>A	ExAC,gnomAD
rs778930519	p.Gly269Asp	missense variant	-	NC_000002.12:g.190057580C>T	ExAC,TOPMed,gnomAD
rs748274574	p.Gly269Arg	missense variant	-	NC_000002.12:g.190057581C>G	ExAC,gnomAD
rs914836580	p.Leu270Arg	missense variant	-	NC_000002.12:g.190057577A>C	TOPMed
rs754970235	p.Asp271Glu	missense variant	-	NC_000002.12:g.190057573G>T	ExAC,gnomAD
rs377546143	p.Asp273Val	missense variant	-	NC_000002.12:g.190057568T>A	ESP,ExAC,gnomAD
rs1220544062	p.Asp273Glu	missense variant	-	NC_000002.12:g.190057567A>C	gnomAD
rs573883915	p.Glu274Asp	missense variant	-	NC_000002.12:g.190057564C>G	ExAC,TOPMed,gnomAD
rs146162833	p.Glu274Lys	missense variant	-	NC_000002.12:g.190057566C>T	ESP,ExAC,gnomAD
rs750136925	p.Thr277Ala	missense variant	-	NC_000002.12:g.190057557T>C	ExAC,TOPMed,gnomAD
rs1360536436	p.Thr277Arg	missense variant	-	NC_000002.12:g.190057556G>C	TOPMed,gnomAD
rs1360536436	p.Thr277Ile	missense variant	-	NC_000002.12:g.190057556G>A	TOPMed,gnomAD
rs1280683734	p.Ser279Thr	missense variant	-	NC_000002.12:g.190057551A>T	gnomAD
rs1284451125	p.Arg280Ter	stop gained	-	NC_000002.12:g.190057548G>A	TOPMed
rs767327429	p.Arg280Gln	missense variant	-	NC_000002.12:g.190057547C>T	ExAC,TOPMed,gnomAD
COSM718811	p.Cys282Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057541C>T	NCI-TCGA Cosmic
rs761528049	p.Arg283His	missense variant	-	NC_000002.12:g.190057538C>T	ExAC,TOPMed,gnomAD
rs965957357	p.Arg283Cys	missense variant	-	NC_000002.12:g.190057539G>A	TOPMed,gnomAD
rs1317979592	p.Pro285Arg	missense variant	-	NC_000002.12:g.190057532G>C	TOPMed
rs1351099849	p.Pro285Ser	missense variant	-	NC_000002.12:g.190057533G>A	gnomAD
rs762492739	p.Asp289Glu	missense variant	-	NC_000002.12:g.190057519A>C	ExAC,TOPMed,gnomAD
rs1195776574	p.Phe290Ser	missense variant	-	NC_000002.12:g.190057517A>G	gnomAD
NCI-TCGA novel	p.Glu291Ter	stop gained	-	NC_000002.12:g.190057515C>A	NCI-TCGA
rs1477987845	p.Glu291Lys	missense variant	-	NC_000002.12:g.190057515C>T	gnomAD
rs139729351	p.Ala292Gly	missense variant	-	NC_000002.12:g.190057511G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139729351	p.Ala292Asp	missense variant	-	NC_000002.12:g.190057511G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1197523986	p.Phe293Leu	missense variant	-	NC_000002.12:g.190057509A>G	gnomAD
rs1266075720	p.Gly294Ala	missense variant	-	NC_000002.12:g.190057505C>G	gnomAD
rs1266075720	p.Gly294Glu	missense variant	-	NC_000002.12:g.190057505C>T	gnomAD
NCI-TCGA novel	p.Asp296Asn	missense variant	-	NC_000002.12:g.190057500C>T	NCI-TCGA
rs771302281	p.Asp296Glu	missense variant	-	NC_000002.12:g.190057498A>T	ExAC,gnomAD
COSM4703473	p.Ala300Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057488C>T	NCI-TCGA Cosmic
rs1180323695	p.Lys302Arg	missense variant	-	NC_000002.12:g.190057481T>C	TOPMed
NCI-TCGA novel	p.Arg303Ile	missense variant	-	NC_000002.12:g.190057478C>A	NCI-TCGA
rs772317945	p.Lys305Glu	missense variant	-	NC_000002.12:g.190057473T>C	ExAC,gnomAD
rs770893080	p.Lys305Asn	missense variant	-	NC_000002.12:g.190057471C>G	gnomAD
rs1222094986	p.Lys305Thr	missense variant	-	NC_000002.12:g.190057472T>G	gnomAD
COSM3990925	p.Ala306Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057470C>T	NCI-TCGA Cosmic
rs748362537	p.Asn307Ser	missense variant	-	NC_000002.12:g.190057466T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr308His	missense variant	-	NC_000002.12:g.190057464A>G	NCI-TCGA
COSM3575574	p.Gly311Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057454C>T	NCI-TCGA Cosmic
rs779053077	p.Glu312Asp	missense variant	-	NC_000002.12:g.190057450C>G	ExAC,TOPMed,gnomAD
rs1478172957	p.Cys313Arg	missense variant	-	NC_000002.12:g.190057449A>G	TOPMed
NCI-TCGA novel	p.Val316Leu	missense variant	-	NC_000002.12:g.190057440C>G	NCI-TCGA
rs749291285	p.Phe317Leu	missense variant	-	NC_000002.12:g.190057437A>G	ExAC,gnomAD
rs780064368	p.Leu318Ter	stop gained	-	NC_000002.12:g.190057433A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys320AsnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.190057426T>-	NCI-TCGA
NCI-TCGA novel	p.Tyr321IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.190057425_190057426insT	NCI-TCGA
COSM26927	p.Pro322Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057421G>A	NCI-TCGA Cosmic
COSM1691749	p.Pro322Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057422G>A	NCI-TCGA Cosmic
rs149366335	p.Val327Ile	missense variant	-	NC_000002.12:g.190057407C>T	ESP,ExAC,TOPMed,gnomAD
rs781131536	p.His328Asn	missense variant	-	NC_000002.12:g.190057404G>T	ExAC,gnomAD
rs1212883493	p.Asn331Lys	missense variant	-	NC_000002.12:g.190057393G>T	TOPMed,gnomAD
rs1335189462	p.Asn331Tyr	missense variant	-	NC_000002.12:g.190057395T>A	TOPMed
rs757027065	p.Pro332Leu	missense variant	-	NC_000002.12:g.190057391G>A	ExAC,TOPMed,gnomAD
rs1479658661	p.Arg333Ser	missense variant	-	NC_000002.12:g.190057387T>G	gnomAD
COSM4918707	p.Ala336Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057379G>C	NCI-TCGA Cosmic
rs1292267841	p.Gly337Asp	missense variant	-	NC_000002.12:g.190057376C>T	TOPMed
rs751268573	p.Pro338Arg	missense variant	-	NC_000002.12:g.190057373G>C	ExAC,gnomAD
rs777966647	p.Cys340Arg	missense variant	-	NC_000002.12:g.190057368A>G	TOPMed
COSM1404092	p.Lys344Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057354C>A	NCI-TCGA Cosmic
COSM1014083	p.Met345Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057351C>T	NCI-TCGA Cosmic
rs762554695	p.Met345Leu	missense variant	-	NC_000002.12:g.190057353T>G	ExAC,gnomAD
rs34780010	p.Ile348Thr	missense variant	-	NC_000002.12:g.190057343A>G	-
rs34780010	p.Ile348Thr	missense variant	-	NC_000002.12:g.190057343A>G	UniProt,dbSNP
VAR_052575	p.Ile348Thr	missense variant	-	NC_000002.12:g.190057343A>G	UniProt
rs1338594010	p.Met350Lys	missense variant	-	NC_000002.12:g.190057337A>T	TOPMed
NCI-TCGA novel	p.Tyr352Cys	missense variant	-	NC_000002.12:g.190057331T>C	NCI-TCGA
rs150185464	p.Asn354His	missense variant	-	NC_000002.12:g.190057326T>G	ESP,ExAC,gnomAD
rs150185464	p.Asn354Asp	missense variant	-	NC_000002.12:g.190057326T>C	ESP,ExAC,gnomAD
COSM1014082	p.Glu357Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.190057317C>A	NCI-TCGA Cosmic
rs773630476	p.Gln358Lys	missense variant	-	NC_000002.12:g.190057314G>T	ExAC,TOPMed,gnomAD
rs773630476	p.Gln358Glu	missense variant	-	NC_000002.12:g.190057314G>C	ExAC,TOPMed,gnomAD
rs1440461499	p.Ile359Met	missense variant	-	NC_000002.12:g.190057309T>C	TOPMed
rs772442097	p.Tyr361Phe	missense variant	-	NC_000002.12:g.190057304T>A	ExAC,TOPMed,gnomAD
rs375423318	p.Gly362Glu	missense variant	-	NC_000002.12:g.190057301C>T	ESP,TOPMed
COSM232820	p.Pro365Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057293G>A	NCI-TCGA Cosmic
rs762101359	p.Pro365Thr	missense variant	-	NC_000002.12:g.190057293G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala366Ser	missense variant	-	NC_000002.12:g.190057290C>A	NCI-TCGA
rs774592036	p.Ala366Val	missense variant	-	NC_000002.12:g.190057289G>A	ExAC,TOPMed,gnomAD
rs774592036	p.Ala366Glu	missense variant	-	NC_000002.12:g.190057289G>T	ExAC,TOPMed,gnomAD
COSM3575571	p.Val368Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057284C>T	NCI-TCGA Cosmic
rs1475410773	p.Val368Leu	missense variant	-	NC_000002.12:g.190057284C>G	TOPMed
rs1467336063	p.Val369Ile	missense variant	-	NC_000002.12:g.190057281C>T	gnomAD
rs909405834	p.Asp370His	missense variant	-	NC_000002.12:g.190057278C>G	gnomAD
rs16823988	p.Arg371Gly	missense variant	-	NC_000002.12:g.190057275G>C	ExAC,TOPMed,gnomAD
rs772177439	p.Arg371Leu	missense variant	-	NC_000002.12:g.190057274C>A	TOPMed,gnomAD
rs772177439	p.Arg371His	missense variant	-	NC_000002.12:g.190057274C>T	TOPMed,gnomAD
rs16823988	p.Arg371Cys	missense variant	-	NC_000002.12:g.190057275G>A	ExAC,TOPMed,gnomAD
rs779966989	p.Gly373Arg	missense variant	-	NC_000002.12:g.190057269C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys374Arg	missense variant	-	NC_000002.12:g.190057266A>G	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002726	Amyloidosis	disease	BEFREE
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE;RGD
C0003838	Arterial Occlusive Diseases	group	RGD
C0003850	Arteriosclerosis	disease	BEFREE
C0006625	Cachexia	phenotype	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0013720	Ehlers-Danlos Syndrome	disease	BEFREE
C0015695	Fatty Liver	disease	BEFREE
C0017924	Glycogen Storage Disease Type V	disease	BEFREE
C0018799	Heart Diseases	group	BEFREE
C0018801	Heart failure	disease	BEFREE;CTD_human;RGD
C0018802	Congestive heart failure	disease	BEFREE;CTD_human;RGD
C0020676	Hypothyroidism	disease	RGD
C0021846	Intestinal Polyps	phenotype	BEFREE
C0023212	Left-Sided Heart Failure	disease	CTD_human
C0023267	Fibroid Tumor	group	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0026846	Muscular Atrophy	phenotype	RGD
C0026847	Spinal Muscular Atrophy	disease	BEFREE
C0026848	Myopathy	group	BEFREE
C0026850	Muscular Dystrophy	disease	BEFREE
C0028259	Nodule	phenotype	BEFREE
C0028754	Obesity	disease	BEFREE
C0029453	Osteopenia	disease	BEFREE
C0031115	Peripheral angiopathy in diseases classified elsewhere	disease	RGD
C0035334	Retinitis Pigmentosa	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE;LHGDN
C0041948	Uremia	disease	BEFREE;RGD
C0042133	Uterine Fibroids	group	BEFREE
C0043046	Wasting Syndrome	disease	BEFREE
C0154682	Lateral Sclerosis	disease	BEFREE
C0220994	Hyperammonemia	phenotype	BEFREE
C0234958	Muscle degeneration	disease	BEFREE
C0235394	Wasting	disease	BEFREE
C0235527	Heart Failure, Right-Sided	disease	CTD_human
C0236033	Muscle hypertrophy	phenotype	CLINVAR;CTD_human
C0238190	Inclusion Body Myositis (disorder)	disease	BEFREE
C0243038	Carcinoma, Lewis Lung	disease	BEFREE
C0263630	Hypertrophic disorder of skin, unspecified	group	BEFREE
C0264716	Chronic heart failure	disease	BEFREE
C0340643	Dissection of aorta	disease	BEFREE
C0341858	Endometriosis of uterus	disease	BEFREE
C0343755	HIV Wasting Syndrome	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0730607	Severe chronic obstructive pulmonary disease	disease	BEFREE
C0751713	Inclusion Body Myopathy, Sporadic	disease	BEFREE
C0872084	Sarcopenia	phenotype	BEFREE
C0877009	Muscle fibrosis	phenotype	BEFREE
C1285162	Degenerative disorder	group	BEFREE
C1397307	Cardiac fibrosis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1561643	Chronic Kidney Diseases	group	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1832567	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	disease	BEFREE
C1959583	Myocardial Failure	disease	CTD_human
C1961112	Heart Decompensation	phenotype	CTD_human
C2265792	Skeletal muscle hypertrophy	phenotype	HPO
C2711227	Steatohepatitis	disease	BEFREE
C2931112	Myostatin-related muscle hypertrophy	disease	CTD_human;MGD;ORPHANET
C4268741	Age-related sarcopenia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005102	signaling receptor binding	IPI
GO:0005125	cytokine activity	IBA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA
GO:0008201	heparin binding	IEA
GO:0042802	identical protein binding	IPI
GO:0042802	identical protein binding	IDA
GO:0042803	protein homodimerization activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA
GO:0007517	muscle organ development	TAS
GO:0009408	response to heat	IEA
GO:0009629	response to gravity	IEA
GO:0010592	positive regulation of lamellipodium assembly	ISS
GO:0010759	positive regulation of macrophage chemotaxis	ISS
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA
GO:0014732	skeletal muscle atrophy	IEA
GO:0014741	negative regulation of muscle hypertrophy	IEA
GO:0014839	myoblast migration involved in skeletal muscle regeneration	ISS
GO:0014850	response to muscle activity	IEA
GO:0022602	ovulation cycle process	IEA
GO:0033574	response to testosterone	IEA
GO:0033673	negative regulation of kinase activity	IEA
GO:0043627	response to estrogen	IEA
GO:0045471	response to ethanol	IEA
GO:0045662	negative regulation of myoblast differentiation	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0046627	negative regulation of insulin receptor signaling pathway	IEA
GO:0046716	muscle cell cellular homeostasis	IDA
GO:0048632	negative regulation of skeletal muscle tissue growth	IMP
GO:0051602	response to electrical stimulus	IEA
GO:0051898	negative regulation of protein kinase B signaling	IDA
GO:0060395	SMAD protein signal transduction	IBA
GO:0071549	cellular response to dexamethasone stimulus	IEA
GO:1902723	negative regulation of skeletal muscle satellite cell proliferation	ISS
GO:1902725	negative regulation of satellite cell differentiation	ISS
GO:2000818	negative regulation of myoblast proliferation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005623	cell	IEA
GO:0005737	cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-9614085	FOXO-mediated transcription	IEA
R-HSA-9617828	FOXO-mediated transcription of cell cycle genes	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000111	Acetylcysteine	Acetylcysteine results in decreased expression of MSTN mRNA	16968467
D000111	Acetylcysteine	Acetylcysteine results in decreased expression of MSTN protein	16968467
D020106	Acrylamide	Acrylamide affects the expression of MSTN mRNA	28959563
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MSTN mRNA	16483693
D000728	Androgens	Androgens results in decreased expression of MSTN protein	17658471
D001151	Arsenic	Arsenic affects the expression of MSTN protein	24675094
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to MSTN promoter]	19654925
C006780	bisphenol A	bisphenol A results in increased expression of MSTN mRNA	25594700
C006780	bisphenol A	bisphenol A results in decreased expression of MSTN mRNA	25181051; 30816183;
C584509	C646 compound	C646 compound results in increased expression of MSTN mRNA	26921506
D000077261	Carvedilol	Carvedilol results in decreased expression of MSTN mRNA	16968467
D000077261	Carvedilol	Carvedilol results in decreased expression of MSTN protein	16968467
D002945	Cisplatin	Cisplatin results in increased expression of MSTN mRNA	24823295
C018021	cobaltous chloride	cobaltous chloride results in increased expression of MSTN protein	20884321
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of MSTN mRNA	23640034
D000077209	Decitabine	Decitabine results in decreased expression of MSTN mRNA	27915011
D003907	Dexamethasone	Dexamethasone results in increased expression of MSTN mRNA	23752591
D003907	Dexamethasone	Dexamethasone results in increased expression of MSTN protein	23752591
D003907	Dexamethasone	(+)-JQ1 compound inhibits the reaction [Dexamethasone results in increased expression of MSTN mRNA]	23752591
D003907	Dexamethasone	(+)-JQ1 compound inhibits the reaction [Dexamethasone results in increased expression of MSTN protein]	23752591
D003907	Dexamethasone	SMYD3 mutant form inhibits the reaction [Dexamethasone results in increased expression of MSTN mRNA]	23752591
D003907	Dexamethasone	Dexamethasone results in increased expression of MSTN mRNA	12721153
D003907	Dexamethasone	Dexamethasone results in increased expression of MSTN protein	12721153
D003907	Dexamethasone	Mifepristone inhibits the reaction [Dexamethasone results in increased expression of MSTN mRNA]	12721153
D003907	Dexamethasone	Mifepristone inhibits the reaction [Dexamethasone results in increased expression of MSTN protein]	12721153
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in decreased expression of MSTN mRNA	28962523
D004026	Dieldrin	Dieldrin results in increased expression of MSTN mRNA	23041725
D017292	Doxazosin	Doxazosin results in decreased expression of MSTN mRNA	16968467
D017292	Doxazosin	Doxazosin results in decreased expression of MSTN protein	16968467
D004958	Estradiol	Estradiol results in decreased expression of MSTN mRNA	21177794
C074283	estradiol 3-benzoate	estradiol 3-benzoate promotes the reaction [Progesterone results in decreased expression of MSTN mRNA]	18845635
C074283	estradiol 3-benzoate	estradiol 3-benzoate results in decreased expression of MSTN mRNA	18845635
D005419	Flavonoids	Flavonoids results in increased expression of MSTN mRNA	18035473
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of MSTN mRNA	29522793
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [Dexamethasone results in increased expression of MSTN mRNA]	23752591
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [Dexamethasone results in increased expression of MSTN protein]	23752591
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MSTN mRNA	23752591
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MSTN protein	23752591
D008696	Methandrostenolone	Methandrostenolone results in increased expression of MSTN mRNA	21818626
D015735	Mifepristone	Mifepristone inhibits the reaction [Dexamethasone results in increased expression of MSTN mRNA]	12721153
D015735	Mifepristone	Mifepristone inhibits the reaction [Dexamethasone results in increased expression of MSTN protein]	12721153
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of MSTN mRNA	27935865
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of MSTN mRNA	27935865
D000077205	Pioglitazone	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of MSTN mRNA	27935865
D011374	Progesterone	Progesterone results in decreased expression of MSTN mRNA	19553605
D011374	Progesterone	Progesterone results in increased expression of MSTN mRNA	19553605
D011374	Progesterone	estradiol 3-benzoate promotes the reaction [Progesterone results in decreased expression of MSTN mRNA]	18845635
D011374	Progesterone	Progesterone results in decreased expression of MSTN mRNA	18845635
D012834	Silver	Silver analog results in decreased expression of MSTN mRNA	22727896
D012835	Silver Nitrate	Silver Nitrate results in increased expression of MSTN mRNA	22727896
D013739	Testosterone	Testosterone deficiency results in decreased expression of MSTN mRNA	21045173
D013739	Testosterone	Testosterone inhibits the reaction [Testosterone deficiency results in decreased expression of MSTN mRNA]	21045173
D013739	Testosterone	Testosterone results in decreased expression of MSTN mRNA	17658471
D013739	Testosterone	Testosterone results in decreased expression of MSTN protein	17658471
C012589	trichostatin A	trichostatin A affects the expression of MSTN mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of MSTN mRNA	24935251
D014635	Valproic Acid	Valproic Acid affects the expression of MSTN mRNA	25979313
D000077337	Vorinostat	Vorinostat results in increased expression of MSTN mRNA	27188386
C581157	XL147	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of MSTN mRNA	27935865
D015034	Zinc Oxide	Zinc Oxide affects the expression of MSTN mRNA	28648595

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0165	Cleavage on pair of basic residues
KW-0202	Cytokine
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0358	Heparin-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR029034	Cystine-knot_cytokine
IPR001839	TGF-b_C
IPR001111	TGF-b_propeptide
IPR015615	TGF-beta-rel
IPR017948	TGFb_CS

PROSITE

PROSITE ID	PROSITE Term
PS00250	TGF_BETA_1
PS51362	TGF_BETA_2

Pfam

Pfam ID	Pfam Term
PF00019	TGF_beta
PF00688	TGFb_propeptide

Gene: MSTN

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction