ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
16-15797850-A-C	ENST00000396324	p.Ter1980GluextTer58	Stop Lost	0	0	0	rs1282723230
16-15797855-C-G	ENST00000396324	p.Ser1978Thr	Missense Variant	0	0	0	rs914328780
16-15797855-C-T	ENST00000396324	p.Ser1978Asn	Missense Variant	0	0	0	rs914328780
16-15797860-C-T	ENST00000396324	p.Lys1976Lys	Synonymous Variant	0	0	0	rs755125529
16-15797870-T-C	ENST00000396324	p.Asn1973Ser	Missense Variant	0	0	0	rs1317809527
16-15797870-T-G	ENST00000396324	p.Asn1973Thr	Missense Variant	0	0	0	rs1317809527
16-15797877-C-G	ENST00000396324	p.Asp1971His	Missense Variant	0	0	0	rs781487785
16-15797879-G-C	ENST00000396324	p.Ala1970Gly	Missense Variant	0	0	0	rs1203781203
16-15797880-C-T	ENST00000396324	p.Ala1970Thr	Missense Variant	2	31366	0.000064	rs146413415
16-15797881-G-A	ENST00000396324	p.Asp1969Asp	Synonymous Variant	0	0	0	rs140789717
16-15797883-C-T	ENST00000396324	p.Asp1969Asn	Missense Variant	0	0	0	rs1207603681
16-15797884-T-C	ENST00000396324	p.Arg1968Arg	Synonymous Variant	0	0	0	rs778681567
16-15797885-C-T	ENST00000396324	p.Arg1968Gln	Missense Variant	1	31372	0.000032	rs745846240
16-15797886-G-A	ENST00000396324	p.Arg1968Ter	Stop Gained	0	0	0	rs772155686	lc_lof
16-15797886-G-C	ENST00000396324	p.Arg1968Gly	Missense Variant	0	0	0	rs772155686
16-15797887-A-C	ENST00000396324	p.Thr1967Thr	Synonymous Variant	0	0	0	rs1388227616
16-15797888-G-A	ENST00000396324	p.Thr1967Ile	Missense Variant	0	0	0	rs1448853511
16-15797888-G-T	ENST00000396324	p.Thr1967Asn	Missense Variant	0	0	0	rs1448853511
16-15797893-C-T	ENST00000396324	p.Thr1965Thr	Synonymous Variant	1	31374	0.000032	rs761000142
16-15797894-G-A	ENST00000396324	p.Thr1965Met	Missense Variant	2	31376	0.000064	rs149701021

Showing 1 to 20 of 1,774 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
MYH11	P35749	Phosphorylation	1009	S1009-p	KLLEERIsDLTTNLA	227.34	56654282
MYH11	P35749	Phosphorylation	1034	S1034-p	KLKNKHEsMISELEV	227.34	27456448
MYH11	P35749	Ubiquitination	1088	K1088-ub	LKMQLAKkEEELQAA	227.34	964528834
MYH11	P35749	Acetylation	1088	K1088-ac	LKMQLAKkEEELQAA	227.34	36311996
MYH11	P35749	Acetylation	1111	K1111-ac	AQKNNALkKIRELEG	227.34	3834194
MYH11	P35749	Phosphorylation	1121	S1121-p	RELEGHIsDLQEDLD	227.34	27456440
MYH11	P35749	Phosphorylation	1153	T1153-p	EELEALKtELEDTLD	227.34	25301053
MYH11	P35749	Phosphorylation	1161	S1161-p	ELEDTLDstATQQEL	227.34	25301059
MYH11	P35749	Phosphorylation	1162	T1162-p	LEDTLDstATQQELR	227.34	25301061
MYH11	P35749	Phosphorylation	1189	S1189-p	ALDEETRsHEAQVQE	227.34	41286822
MYH11	P35749	Acetylation	1216	K1216-ac	TEQLEQFkRAKANLD	227.34	3834198
MYH11	P35749	Ubiquitination	1226	K1226-ub	KANLDKNkQTLEKEN	227.34	41490872
MYH11	P35749	Phosphorylation	1266	S1266-p	AQVQELQsKCSDGER	227.34	27456454
MYH11	P35749	Methylation	129	K129-m1	CVVVNPYkHLPIYSE	227.34	15380217
MYH11	P35749	Phosphorylation	1336	T1336-p	RQKLNVStKLRQLEE	227.34	27456468
MYH11	P35749	Phosphorylation	1347	S1347-p	QLEEERNsLQDQLDE	227.34	36702854
MYH11	P35749	Phosphorylation	1367	S1367-p	QNLERHIstLNIQLS	227.34	3920656
MYH11	P35749	Phosphorylation	1368	T1368-p	NLERHIstLNIQLSD	227.34	54414866
MYH11	P35749	Acetylation	1377	K1377-ac	NIQLSDSkkKLQDFA	227.34	3832172
MYH11	P35749	Acetylation	1378	K1378-ac	IQLSDSkkKLQDFAS	227.34	3834923

Showing 1 to 20 of 107 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
MYH11	ENST00000396324	TCGA-BQ-7061-01	kidney	carcinoma	42865496	c.2258C>A	p.A753D	Substitution - Missense	PATHOGENIC	.99479	Confirmed somatic variant	PMID: N/A	NS	753
MYH11	ENST00000396324	AOCS-085-1-2	ovary	carcinoma	42873560	c.3672+1056A>G	p.?	Unknown	NEUTRAL	.01219	Confirmed somatic variant	PMID: N/A	NS	0
MYH11	ENST00000396324	D01	NS	malignant_melanoma	42883483	c.2466C>T	p.A822=	Substitution - coding silent	PATHOGENIC	.81142	Confirmed somatic variant	PMID: 23890154	metastasis	822
MYH11	ENST00000396324	007-0020-01TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	42869505	c.210G>C	p.T70=	Substitution - coding silent	NEUTRAL	.1649	Confirmed somatic variant	PMID: N/A	NS	70
MYH11	ENST00000396324	TCGA-AG-A02X-01	large_intestine	carcinoma	42872831	c.347C>T	p.T116M	Substitution - Missense	PATHOGENIC	.99753	Confirmed somatic variant	PMID: 22810696	primary	116
MYH11	ENST00000396324	GCTK_397_T	stomach	carcinoma	42887147	c.5810G>A	p.R1937Q	Substitution - Missense	PATHOGENIC	.82944	Confirmed somatic variant	PMID: N/A	primary	1937
MYH11	ENST00000396324	TCGA-BH-A0EE-01	breast	carcinoma	42871596	c.630C>T	p.I210=	Substitution - coding silent	PATHOGENIC	.91805	Confirmed somatic variant	PMID: N/A	primary	210
MYH11	ENST00000396324	TCGA-CZ-5468-01	kidney	carcinoma	42885756	c.3528G>C	p.R1176S	Substitution - Missense		.58476	Confirmed somatic variant	PMID: N/A	primary	1176
MYH11	ENST00000396324	TCGA-19-A6J5-01	central_nervous_system	glioma	42890038	c.4112G>A	p.R1371H	Substitution - Missense	PATHOGENIC	.917	Confirmed somatic variant	PMID: N/A	primary	1371
MYH11	ENST00000396324	1T66	oesophagus	carcinoma	42870302	c.4045G>C	p.E1349Q	Substitution - Missense	PATHOGENIC	.96873	Confirmed somatic variant	PMID: N/A	primary	1349
MYH11	ENST00000396324	LP6008280-DNA_A02	oesophagus	carcinoma	42886744	c.346-5215G>A	p.?	Unknown	NEUTRAL	.00301	Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	YUZINO	skin	malignant_melanoma	42878538	c.3023G>A	p.R1008Q	Substitution - Missense	PATHOGENIC	.89104	Confirmed somatic variant	PMID: 22842228	metastasis	1008
MYH11	ENST00000396324	T_CCA_TH_12	biliary_tract	carcinoma	42865154	c.-18+724dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	DN14011	breast	carcinoma	42882382	c.1886-853C>T	p.?	Unknown	NEUTRAL	.02265	Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	DN14011	breast	carcinoma	42882389	c.654+1075G>A	p.?	Unknown	NEUTRAL	.00093	Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	TARGET-30-PASAZZ-01A-01D	autonomic_ganglia	neuroblastoma	42881390	c.2080-3C>T	p.?	Unknown	NEUTRAL	.44948	Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	DA1600B	endometrium	carcinoma	42879173	c.502+4840C>G	p.?	Unknown	NEUTRAL	.00826	Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	OSC3-IO3	ovary	carcinoma	42876788	c.5370T>A	p.N1790K	Substitution - Missense		.66148	Confirmed somatic variant	PMID: 27741368	NS	1790
MYH11	ENST00000396324	2014_Lung_sq_100_T	lung	carcinoma	42869089	c.748-48C>A	p.?	Unknown	NEUTRAL	.00744	Confirmed somatic variant	PMID: N/A	primary	0
MYH11	ENST00000396324	TCGA-BF-A1PX-01	skin	malignant_melanoma	42877148	c.1630G>T	p.E544*	Substitution - Nonsense	PATHOGENIC	.70712	Confirmed somatic variant	PMID: N/A	primary	544

Showing 1 to 20 of 1,274 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00063	Myosin_head	Myosin head (motor domain)	87-771	CL0023	P-loop_NTPase	Homo sapiens
PF01576	Myosin_tail_1	Myosin tail	848-1928			Homo sapiens
PF02736	Myosin_N	Myosin N-terminal SH3-like domain	31-76	CL0010	SH3	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Ehlers-Danlos Syndrome	Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.567	0.483
Leukemia, Myelocytic, Acute	Neoplasms ;	0.567	0.483
Acute myelomonocytic leukemia	Neoplasms ;	0.567	0.483
Marfan Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.567	0.483
Acute Myeloid Leukemia, M1	Neoplasms ;	0.567	0.483
Aortic Aneurysm, Thoracic	Cardiovascular Diseases ;	0.567	0.483
Congenital aneurysm of ascending aorta	Cardiovascular Diseases ;	0.567	0.483
Cystic medial necrosis of aorta	Neoplasms ; Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.567	0.483
Megacystis microcolon intestinal hypoperistalsis syndrome	Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.567	0.483
Aortic aneurysm, familial thoracic 4	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.567	0.483
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.567	0.483
Cakut	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.567	0.483
AML M4 Eo with inv(16) or t(16;16)	N/A	0.567	0.483
NO RESULT FOUND

Description:	myosin heavy chain 11 [Source:HGNC Symbol;Acc:HGNC:7569]
Synonyms:	SMMHC, AAT4, SMHC, FAA4
Other ID(s):	HGNC:7569, ENSG00000276480, ENSG00000133392
Protein Accession Numbers:	NP_001035203, ENST00000452625, NP_074035, ENST00000300036, NP_001035202, ENST00000396324.3, NP_002465,, ENST00000576790, ENST00000396324
Statistics:	ClinVar(1385) gnomAD(1774) COSMIC(1274) PTM(107)

Classification of Clinicial Significance of ClinVar Data