MYH11 (GeneID: 4629) | Homo sapiens
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, ENST00000300036, NP_074035, NP_001035202, ENST00000396324.3,, NP_002465, ENST00000576790, ENST00000396324
Statistics: ClinVar(1349) gnomAD(1767) COSMIC(1134) PTM(107)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000300036 You are here now! ENST00000396324 ENST00000452625 ENST00000576790 NP_001035202 NP_001035203 NP_002465 You are here now! NP_074035


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
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

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
feedback