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P12883 (MYH7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 177. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin-7
Alternative name(s):
Myosin heavy chain 7
Myosin heavy chain slow isoform
Short name=MyHC-slow
Myosin heavy chain, cardiac muscle beta isoform
Short name=MyHC-beta
Gene names
Name:MYH7
Synonyms:MYHCB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1935 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Muscle contraction.

Subunit structure

Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with ECM29. Ref.20

Subcellular location

Cytoplasmmyofibril. Note: Thick filaments of the myofibrils.

Tissue specificity

Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level). Ref.10

Domain

The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.

Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

Involvement in disease

Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.50 Ref.51 Ref.52 Ref.53 Ref.55 Ref.56 Ref.57 Ref.59 Ref.60 Ref.61 Ref.63 Ref.64 Ref.65 Ref.66 Ref.67 Ref.70 Ref.72 Ref.74 Ref.75 Ref.76 Ref.77 Ref.78 Ref.79 Ref.80 Ref.83

Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.58 Ref.71 Ref.82

Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.82

Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.49 Ref.54 Ref.73 Ref.84

Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.69 Ref.81

Miscellaneous

The cardiac alpha isoform isa 'fast' ATPase myosin, while the beta isoform isa 'slow' ATPase.

Sequence similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Contains 1 IQ domain.

Contains 1 myosin motor domain.

Caution

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7 (MYO7).

Ontologies

Keywords
   Cellular componentCytoplasm
Thick filament
   Coding sequence diversityPolymorphism
   DiseaseCardiomyopathy
Disease mutation
   DomainCoiled coil
   LigandActin-binding
ATP-binding
Calmodulin-binding
Nucleotide-binding
   Molecular functionMotor protein
Muscle protein
Myosin
   PTMIsopeptide bond
Methylation
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay PubMed 15621050. Source: BHF-UCL

adult heart development

Inferred from mutant phenotype Ref.77. Source: HGNC

muscle contraction

Inferred from direct assay PubMed 15621050. Source: HGNC

muscle filament sliding

Inferred from mutant phenotype PubMed 16088376Ref.10. Source: HGNC

regulation of heart rate

Inferred from direct assay PubMed 15621050. Source: HGNC

regulation of the force of heart contraction

Inferred from direct assay PubMed 15621050. Source: BHF-UCL

striated muscle contraction

Inferred from direct assay PubMed 15621050. Source: BHF-UCL

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 16754800. Source: BHF-UCL

   Cellular_componentZ disc

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay. Source: HPA

focal adhesion

Inferred from direct assay. Source: HPA

muscle myosin complex

Traceable author statement Ref.12. Source: UniProtKB

myosin complex

Traceable author statement PubMed 12933792. Source: HGNC

myosin filament

Inferred from direct assay PubMed 19336582. Source: BHF-UCL

nucleus

Inferred from direct assay. Source: HPA

sarcomere

Traceable author statement PubMed 16754800. Source: BHF-UCL

stress fiber

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity

Inferred from direct assay PubMed 15621050. Source: HGNC

actin-dependent ATPase activity

Inferred from mutant phenotype PubMed 16088376. Source: HGNC

microfilament motor activity

Non-traceable author statement Ref.12. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 17192269. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19351935Myosin-7
PRO_0000123407

Regions

Domain85 – 778694Myosin motor
Domain781 – 81030IQ
Nucleotide binding178 – 1858ATP
Region655 – 67723Actin-binding
Region757 – 77115Actin-binding
Coiled coil839 – 19351097 Potential

Amino acid modifications

Modified residue1291N6,N6,N6-trimethyllysine Potential
Cross-link207Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link213Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link1531Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link1537Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Natural variations

Natural variant31D → A.
Corresponds to variant rs3729993 [ dbSNP | Ensembl ].
VAR_029430
Natural variant261A → V in CMH1. Ref.72
Corresponds to variant rs186964570 [ dbSNP | Ensembl ].
VAR_004566
Natural variant391V → M in CMH1. Ref.61
VAR_019845
Natural variant591V → I in CMH1.
VAR_004567
Natural variant1071D → E. Ref.2 Ref.8
Corresponds to variant rs2754166 [ dbSNP | Ensembl ].
VAR_017745
Natural variant1151Y → H in CMH1. Ref.70
VAR_042762
Natural variant1241T → I in CMH1. Ref.35
VAR_020797
Natural variant1431R → G in CMH1. Ref.64
VAR_042763
Natural variant1431R → Q in CMH1. Ref.70 Ref.72
VAR_004568
Natural variant1431R → W in CMH1. Ref.63
VAR_029431
Natural variant1461K → N in CMH1. Ref.76 Ref.83
VAR_042764
Natural variant1481S → I in CMH1. Ref.64
VAR_042765
Natural variant1621Y → C in CMH1. Ref.35
VAR_020798
Natural variant1861V → L in CMH1. Ref.76
VAR_042766
Natural variant1871N → K in CMH1. Ref.35
VAR_020799
Natural variant1881T → N in CMH1. Ref.61
VAR_019846
Natural variant1901R → T in CMH1. Ref.45 Ref.60
VAR_020800
Natural variant1961A → T in CMH1. Ref.65
VAR_042767
Natural variant2011I → T in CMD1S. Ref.73
VAR_042768
Natural variant2041R → H in CMH1. Ref.61
VAR_019847
Natural variant2071K → Q in CMH1. Ref.64
VAR_042769
Natural variant2111P → L in CMH1. Ref.64 Ref.65 Ref.77
VAR_042770
Natural variant2221Q → K in CMH1. Ref.35
VAR_020801
Natural variant2231A → T in CMD1S. Ref.54
VAR_017746
Natural variant2271L → V in CMH1. Ref.75
VAR_042771
Natural variant2321N → S in CMH1. Ref.61
VAR_019848
Natural variant2441F → L in CMH1. Ref.35
VAR_020802
Natural variant2491R → Q in CMH1. Ref.24 Ref.38 Ref.53 Ref.57 Ref.61 Ref.65
Corresponds to variant rs3218713 [ dbSNP | Ensembl ].
VAR_004569
Natural variant2561G → E in CMH1. Ref.30
VAR_004570
Natural variant2631I → M in CMH1. Ref.70
VAR_042772
Natural variant2631I → T in CMH1. Ref.41 Ref.61
VAR_004571
Natural variant3121F → C in CMH1. Ref.70
VAR_042773
Natural variant3201V → M in CMH1. Ref.60
VAR_020803
Natural variant3281E → G in CMH1. Ref.75
VAR_042774
Natural variant3491M → T in CMH1. Ref.40 Ref.57 Ref.70
VAR_004572
Natural variant3511K → E in CMH1. Ref.64 Ref.75
VAR_042775
Natural variant3551A → T in CMH1. Ref.61
VAR_019849
Natural variant3831K → N in CMH1. Ref.37
VAR_042776
Natural variant3851A → V in CMH1. Ref.70
VAR_042777
Natural variant3901L → V in CMH1. Ref.50 Ref.60
VAR_020804
Natural variant4031R → L in CMH1. Ref.29 Ref.61
VAR_004573
Natural variant4031R → Q in CMH1. Ref.10 Ref.21 Ref.23 Ref.24 Ref.25 Ref.57 Ref.61 Ref.64 Ref.65 Ref.70 Ref.75
VAR_004574
Natural variant4031R → W in CMH1. Ref.28 Ref.29 Ref.43 Ref.61 Ref.63 Ref.75 Ref.77
Corresponds to variant rs3218714 [ dbSNP | Ensembl ].
VAR_004575
Natural variant4041V → L in CMH1. Ref.65
VAR_042778
Natural variant4041V → M in CMH1. Ref.70
VAR_042779
Natural variant4061V → M in CMH1. Ref.53
VAR_020805
Natural variant4071G → V in CMH1. Ref.70
VAR_042780
Natural variant4111V → I in CMH1. Ref.63 Ref.65 Ref.75
VAR_029432
Natural variant4121T → N in CMD1S. Ref.73
VAR_042781
Natural variant4251G → R in CMH1. Ref.72
VAR_042782
Natural variant4281A → V in CMH1. Ref.61 Ref.70
VAR_019850
Natural variant4301A → E in CMH1. Ref.67
VAR_029433
Natural variant4351M → T in CMH1. Ref.75
VAR_042783
Natural variant4401V → M in CMH1. Ref.70
VAR_042784
Natural variant4411T → M in MPD1. Ref.81
VAR_042785
Natural variant4431I → T in CMH1. Ref.61
VAR_019851
Natural variant4501K → E in CMH1. Ref.38
VAR_042786
Natural variant4501K → T in CMH1. Ref.72
VAR_042787
Natural variant4531R → C in CMH1. Ref.24 Ref.25 Ref.36 Ref.53 Ref.59 Ref.61 Ref.65 Ref.70 Ref.75 Ref.77
VAR_004576
Natural variant4531R → H in CMH1. Ref.75
VAR_042788
Natural variant4661E → Q.
Corresponds to variant rs4981473 [ dbSNP | Ensembl ].
VAR_029434
Natural variant4791N → S in CMH1. Ref.61 Ref.64
VAR_019852
Natural variant4831E → K in CMH1. Ref.61
VAR_019853
Natural variant4991E → K in CMH1. Ref.43
Corresponds to variant rs3218715 [ dbSNP | Ensembl ].
VAR_020806
Natural variant5001E → A in CMH1. Ref.64
VAR_042789
Natural variant5011Y → C in CMH1. Ref.77
VAR_042790
Natural variant5111I → F in CMH1. Ref.72
VAR_042791
Natural variant5111I → T in CMH1. Ref.70
VAR_042792
Natural variant5131F → C in CMH1. Ref.33
VAR_004577
Natural variant5151M → R in CMH1. Ref.70
VAR_042793
Natural variant5151M → V in CMH1; infrequent. Ref.79
VAR_039562
Natural variant5171L → M in CMH1. Ref.59
VAR_029435
Natural variant5321S → P in CMD1S. Ref.49
VAR_017747
Natural variant5501A → V in CMD1S. Ref.73
VAR_042794
Natural variant5711G → R in CMH1. Ref.64
VAR_042795
Natural variant5761H → R in CMH1. Ref.77
VAR_042796
Natural variant5841G → R in CMH1. Ref.25
VAR_004578
Natural variant5841G → S in CMH1. Ref.63
VAR_029436
Natural variant5871D → V in CMH1.
VAR_004579
Natural variant5951Q → R in CMH1. Ref.57
VAR_020807
Natural variant6011L → V in CMH1. Ref.60
VAR_020808
Natural variant6021N → S in CMH1.
VAR_004580
Natural variant6061V → M in CMH1; in cis with V-728 gives a more severe phenotype. Ref.24 Ref.25 Ref.53 Ref.57 Ref.60 Ref.61 Ref.75 Ref.76 Ref.83
VAR_004581
Natural variant6151K → N in CMH1. Ref.22
VAR_004582
Natural variant6151K → Q in CMH1. Ref.72
VAR_042797
Natural variant6421S → L in CMD1S. Ref.54
VAR_017748
Natural variant6591M → I in CMH1. Ref.61
VAR_019854
Natural variant6631R → C in CMH1. Ref.70 Ref.72 Ref.75
VAR_042798
Natural variant6631R → H in CMH1. Ref.35 Ref.53 Ref.55 Ref.61 Ref.64 Ref.70 Ref.72 Ref.76 Ref.83
VAR_019855
Natural variant6631R → S in CMH1. Ref.61
VAR_019856
Natural variant6711R → C in CMH1. Ref.61 Ref.64
VAR_019857
Natural variant6941R → C in CMH1. Ref.44 Ref.60 Ref.70
VAR_020809
Natural variant6941R → H in CMH1. Ref.63
VAR_029437
Natural variant6961N → S in CMH1. Ref.42
VAR_020810
Natural variant6981V → A in CMH1. Ref.76
VAR_042799
Natural variant7121R → L in CMH1. Ref.46
VAR_020811
Natural variant7161G → R in CMH1. Ref.33 Ref.61 Ref.65 Ref.70
VAR_004583
Natural variant7191R → Q in CMH1. Ref.31 Ref.43 Ref.57 Ref.61 Ref.70 Ref.75 Ref.76 Ref.83
VAR_017749
Natural variant7191R → W in CMH1. Ref.32 Ref.33 Ref.40 Ref.41 Ref.42 Ref.55 Ref.57 Ref.61 Ref.63 Ref.75
VAR_004584
Natural variant7231R → C in CMH1. Ref.41 Ref.61 Ref.76
VAR_004585
Natural variant7231R → G in CMH1; malignant phenotype. Ref.48
VAR_020812
Natural variant7281A → V in CMH1; in cis with M-606 gives a more severe phenotype. Ref.52
VAR_017750
Natural variant7311P → L in CMH1.
VAR_004586
Natural variant7331G → E in CMH1. Ref.61
VAR_019858
Natural variant7341Q → E in CMH1. Ref.59
VAR_029438
Natural variant7341Q → P in CMH1. Ref.72
VAR_042800
Natural variant7361I → M in CMH1.
VAR_004587
Natural variant7361I → T in CMH1. Ref.63 Ref.64 Ref.76 Ref.77
VAR_029439
Natural variant7411G → R in CMH1. Ref.30 Ref.61 Ref.70 Ref.72
VAR_004588
Natural variant7411G → W in CMH1. Ref.77
VAR_004589
Natural variant7421A → E in CMH1. Ref.76
VAR_042801
Natural variant7431E → D in CMH1. Ref.51
VAR_014199
Natural variant7631V → G in CMH1. Ref.64
VAR_042802
Natural variant7631V → M in CMH1. Ref.83
VAR_045926
Natural variant7641F → L in CMD1S. Ref.49
VAR_017751
Natural variant7681G → R in CMH1. Ref.55 Ref.61
VAR_019859
Natural variant7741E → V in CMH1. Ref.66
VAR_042803
Natural variant7781D → E in CMH1. Ref.60 Ref.61
VAR_019860
Natural variant7781D → G in CMH1. Ref.26
VAR_004590
Natural variant7781D → V in CMH1. Ref.70
VAR_042804
Natural variant7821S → N in CMH1. Ref.35 Ref.64 Ref.66
VAR_020813
Natural variant7871R → C in CMH1. Ref.83
VAR_045927
Natural variant7871R → H in CMH1. Ref.61 Ref.75
VAR_019861
Natural variant7961L → F in CMH1. Ref.63
VAR_029440
Natural variant7971A → T in CMH1. Ref.34 Ref.43 Ref.70
Corresponds to variant rs3218716 [ dbSNP | Ensembl ].
VAR_004591
Natural variant8221M → L in CMH1. Ref.64
VAR_042805
Natural variant8221M → T in CMH1. Ref.72
VAR_042806
Natural variant8231G → E in CMH1. Ref.72
VAR_042807
Natural variant8241V → I in CMH1. Ref.63
VAR_029441
Natural variant8461E → Q in CMH1. Ref.60
VAR_020814
Natural variant8471Missing in CMH1. Ref.70
VAR_042808
Natural variant8521M → T in CMH1. Ref.61
VAR_019862
Natural variant8581R → C in CMH1; infrequent. Ref.70 Ref.79
VAR_039563
Natural variant8581R → H in CMH1. Ref.72
Corresponds to variant rs2856897 [ dbSNP | Ensembl ].
VAR_042809
Natural variant8691R → C in CMH1. Ref.47
VAR_020815
Natural variant8691R → G in CMH1. Ref.61
VAR_019863
Natural variant8691R → H in CMH1. Ref.70
Corresponds to variant rs202141173 [ dbSNP | Ensembl ].
VAR_042810
Natural variant8701R → C in CMH1. Ref.47 Ref.65
Corresponds to variant rs36211715 [ dbSNP | Ensembl ].
VAR_020816
Natural variant8701R → H in CMH1. Ref.35 Ref.63 Ref.78
Corresponds to variant rs36211715 [ dbSNP | Ensembl ].
VAR_004592
Natural variant8771M → K in CMH1. Ref.53
VAR_020817
Natural variant8821Q → E in CMH1. Ref.64
VAR_042811
Natural variant8831Missing in CMH1. Ref.61
VAR_019864
Natural variant8941E → G in CMH1. Ref.70 Ref.75
VAR_042812
Natural variant9011A → G in CMH1. Ref.77
VAR_042813
Natural variant9051C → F in CMH1. Ref.63
VAR_029442
Natural variant9061D → G in CMH1. Ref.55
VAR_042814
Natural variant9081L → V in CMH1. Ref.23 Ref.27 Ref.64 Ref.65 Ref.70 Ref.75 Ref.83
VAR_004593
Natural variant9211E → K in CMH1. Ref.70
VAR_042815
Natural variant9241E → K in CMH1. Ref.67 Ref.70 Ref.72 Ref.83
VAR_004594
Natural variant9241E → Q in CMH1. Ref.63
VAR_029443
Natural variant9271E → K in CMH1. Ref.75
VAR_042816
Natural variant9271Missing in CMH1. Ref.57
VAR_020818
Natural variant9281D → N in CMH1. Ref.63 Ref.77
VAR_029444
Natural variant9301E → K in CMH1. Ref.65 Ref.72
VAR_004595
Natural variant9301Missing in CMH1. Ref.41 Ref.61
VAR_004596
Natural variant9311E → K in CMH1. Ref.70
VAR_042817
Natural variant9351E → K in CMH1.
VAR_004597
Natural variant9491E → K in CMH1.
VAR_004598
Natural variant9531D → H in CMH1. Ref.70
VAR_042818
Natural variant10191T → N in CMD1S. Ref.73
VAR_042819
Natural variant10441V → A in CMD1S. Ref.84
VAR_067260
Natural variant10571G → D in CMH1. Ref.76
VAR_042820
Natural variant10571G → S in CMH1. Ref.70
VAR_042821
Natural variant1101 – 11044Missing in CMD1S.
VAR_067261
Natural variant11241A → S. Ref.1
Corresponds to variant rs1041961 [ dbSNP | Ensembl ].
VAR_017753
Natural variant11351L → R in CMH1. Ref.61
VAR_019865
Natural variant11931R → S in CMD1S. Ref.73
VAR_042822
Natural variant12181E → Q in CMH1. Ref.61
VAR_019866
Natural variant12631A → E in CMD1S. Ref.84
VAR_067262
Natural variant12971L → V in CMD1S. Ref.84
VAR_067263
Natural variant13271N → K in CMH1. Ref.74
VAR_042823
Natural variant13561E → K in CMH1. Ref.70 Ref.77
VAR_042824
Natural variant13771T → M in CMH1. Ref.61 Ref.70
VAR_019867
Natural variant13791A → T in CMH1. Ref.56 Ref.61
VAR_019868
Natural variant13821R → W in CMH1. Ref.61
VAR_019869
Natural variant14141L → M in CMH1. Ref.83
VAR_045928
Natural variant14201R → W in CMH1. Ref.70
VAR_042825
Natural variant14261E → K in CMD1S. Ref.73
VAR_042826
Natural variant14541A → T in CMH1. Ref.77
VAR_042827
Natural variant14591K → N in CMH1. Ref.70
VAR_042828
Natural variant14751R → C. Ref.74
VAR_042829
Natural variant14911S → C. Ref.56 Ref.70 Ref.73 Ref.74
Corresponds to variant rs3729823 [ dbSNP | Ensembl ].
VAR_020819
Natural variant15001R → P in MPD1. Ref.69
VAR_022369
Natural variant15131T → S in CMH1. Ref.70
VAR_042830
Natural variant15191S → C. Ref.75
VAR_042831
Natural variant15551E → K in CMH1. Ref.57
VAR_020820
Natural variant16171Missing in MPD1. Ref.69
VAR_042832
Natural variant16341R → C in CMD1S. Ref.73
VAR_042833
Natural variant16631A → P in MPD1. Ref.69
VAR_022370
Natural variant16921V → M Probable polymorphism; has been originally reported as a hypertrophic cardiomyopathy mutation. Ref.61 Ref.68
VAR_019870
Natural variant17061L → P in MPD1. Ref.69
VAR_022371
Natural variant17121R → W in CMH1. Ref.74
VAR_042834
Natural variant17291Missing in MPD1. Ref.69
VAR_042835
Natural variant17531E → K in CMH1. Ref.74
VAR_042836
Natural variant17681E → K in CMH1. Ref.70
VAR_042837
Natural variant17761S → G in CMH1. Ref.56
VAR_020821
Natural variant17771A → T in CMH1. Ref.61
VAR_019871
Natural variant18451R → W in MYOMS and SPMM. Ref.58 Ref.82
Corresponds to variant rs28933098 [ dbSNP | Ensembl ].
VAR_017754
Natural variant18541T → M in CMH1. Ref.70
VAR_042838
Natural variant18831E → K in CMH1. Ref.80
VAR_042839
Natural variant19011H → L in MYOMS. Ref.71
VAR_042840
Natural variant19191K → N. Ref.70
VAR_042841
Natural variant19291T → M in CMH1. Ref.70
VAR_042842

Experimental info

Sequence conflict881E → Q in AAA60384. Ref.8
Sequence conflict3971K → G Ref.10
Sequence conflict672 – 6743CII → LYH in CAA37068. Ref.2
Sequence conflict8581R → A in CAA37068. Ref.2
Sequence conflict942 – 9432KL → NV in CAA37068. Ref.2
Sequence conflict10771D → E in CAA35940. Ref.13
Sequence conflict11591V → C in CAA37068. Ref.2
Sequence conflict11591V → C in CAC20413. Ref.3
Sequence conflict12071I → M in ACH92815. Ref.4
Sequence conflict13131E → G in CAA27381. Ref.14
Sequence conflict13561E → R in CAA27381. Ref.14
Sequence conflict1359 – 13602RV → GD in CAA27381. Ref.14
Sequence conflict1575 – 15762KL → NV in AAA36345. Ref.17
Sequence conflict1576 – 15772LA → RQ in CAA27381. Ref.14
Sequence conflict16811Missing in CAA37068. Ref.2
Sequence conflict1703 – 17042EQ → DE in CAA35940. Ref.13
Sequence conflict1703 – 17042EQ → DR in CAA37068. Ref.2
Sequence conflict1703 – 17042EQ → DR in AAA36343. Ref.16
Sequence conflict18661D → A in CAA29119. Ref.18

Secondary structure

........................................................................................................... 1935
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P12883 [UniParc].

Last modified December 6, 2005. Version 5.
Checksum: C58B22F914215718

FASTA1,935223,097
        10         20         30         40         50         60 
MGDSEMAVFG AAAPYLRKSE KERLEAQTRP FDLKKDVFVP DDKQEFVKAK IVSREGGKVT 

        70         80         90        100        110        120 
AETEYGKTVT VKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKDRYG SWMIYTYSGL 

       130        140        150        160        170        180 
FCVTVNPYKW LPVYTPEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES 

       190        200        210        220        230        240 
GAGKTVNTKR VIQYFAVIAA IGDRSKKDQS PGKGTLEDQI IQANPALEAF GNAKTVRNDN 

       250        260        270        280        290        300 
SSRFGKFIRI HFGATGKLAS ADIETYLLEK SRVIFQLKAE RDYHIFYQIL SNKKPELLDM 

       310        320        330        340        350        360 
LLITNNPYDY AFISQGETTV ASIDDAEELM ATDNAFDVLG FTSEEKNSMY KLTGAIMHFG 

       370        380        390        400        410        420 
NMKFKLKQRE EQAEPDGTEE ADKSAYLMGL NSADLLKGLC HPRVKVGNEY VTKGQNVQQV 

       430        440        450        460        470        480 
IYATGALAKA VYERMFNWMV TRINATLETK QPRQYFIGVL DIAGFEIFDF NSFEQLCINF 

       490        500        510        520        530        540 
TNEKLQQFFN HHMFVLEQEE YKKEGIEWTF IDFGMDLQAC IDLIEKPMGI MSILEEECMF 

       550        560        570        580        590        600 
PKATDMTFKA KLFDNHLGKS ANFQKPRNIK GKPEAHFSLI HYAGIVDYNI IGWLQKNKDP 

       610        620        630        640        650        660 
LNETVVGLYQ KSSLKLLSTL FANYAGADAP IEKGKGKAKK GSSFQTVSAL HRENLNKLMT 

       670        680        690        700        710        720 
NLRSTHPHFV RCIIPNETKS PGVMDNPLVM HQLRCNGVLE GIRICRKGFP NRILYGDFRQ 

       730        740        750        760        770        780 
RYRILNPAAI PEGQFIDSRK GAEKLLSSLD IDHNQYKFGH TKVFFKAGLL GLLEEMRDER 

       790        800        810        820        830        840 
LSRIITRIQA QSRGVLARME YKKLLERRDS LLVIQWNIRA FMGVKNWPWM KLYFKIKPLL 

       850        860        870        880        890        900 
KSAEREKEMA SMKEEFTRLK EALEKSEARR KELEEKMVSL LQEKNDLQLQ VQAEQDNLAD 

       910        920        930        940        950        960 
AEERCDQLIK NKIQLEAKVK EMNERLEDEE EMNAELTAKK RKLEDECSEL KRDIDDLELT 

       970        980        990       1000       1010       1020 
LAKVEKEKHA TENKVKNLTE EMAGLDEIIA KLTKEKKALQ EAHQQALDDL QAEEDKVNTL 

      1030       1040       1050       1060       1070       1080 
TKAKVKLEQQ VDDLEGSLEQ EKKVRMDLER AKRKLEGDLK LTQESIMDLE NDKQQLDERL 

      1090       1100       1110       1120       1130       1140 
KKKDFELNAL NARIEDEQAL GSQLQKKLKE LQARIEELEE ELEAERTARA KVEKLRSDLS 

      1150       1160       1170       1180       1190       1200 
RELEEISERL EEAGGATSVQ IEMNKKREAE FQKMRRDLEE ATLQHEATAA ALRKKHADSV 

      1210       1220       1230       1240       1250       1260 
AELGEQIDNL QRVKQKLEKE KSEFKLELDD VTSNMEQIIK AKANLEKMCR TLEDQMNEHR 

      1270       1280       1290       1300       1310       1320 
SKAEETQRSV NDLTSQRAKL QTENGELSRQ LDEKEALISQ LTRGKLTYTQ QLEDLKRQLE 

      1330       1340       1350       1360       1370       1380 
EEVKAKNALA HALQSARHDC DLLREQYEEE TEAKAELQRV LSKANSEVAQ WRTKYETDAI 

      1390       1400       1410       1420       1430       1440 
QRTEELEEAK KKLAQRLQEA EEAVEAVNAK CSSLEKTKHR LQNEIEDLMV DVERSNAAAA 

      1450       1460       1470       1480       1490       1500 
ALDKKQRNFD KILAEWKQKY EESQSELESS QKEARSLSTE LFKLKNAYEE SLEHLETFKR 

      1510       1520       1530       1540       1550       1560 
ENKNLQEEIS DLTEQLGSSG KTIHELEKVR KQLEAEKMEL QSALEEAEAS LEHEEGKILR 

      1570       1580       1590       1600       1610       1620 
AQLEFNQIKA EIERKLAEKD EEMEQAKRNH LRVVDSLQTS LDAETRSRNE ALRVKKKMEG 

      1630       1640       1650       1660       1670       1680 
DLNEMEIQLS HANRMAAEAQ KQVKSLQSLL KDTQIQLDDA VRANDDLKEN IAIVERRNNL 

      1690       1700       1710       1720       1730       1740 
LQAELEELRA VVEQTERSRK LAEQELIETS ERVQLLHSQN TSLINQKKKM DADLSQLQTE 

      1750       1760       1770       1780       1790       1800 
VEEAVQECRN AEEKAKKAIT DAAMMAEELK KEQDTSAHLE RMKKNMEQTI KDLQHRLDEA 

      1810       1820       1830       1840       1850       1860 
EQIALKGGKK QLQKLEARVR ELENELEAEQ KRNAESVKGM RKSERRIKEL TYQTEEDRKN 

      1870       1880       1890       1900       1910       1920 
LLRLQDLVDK LQLKVKAYKR QAEEAEEQAN TNLSKFRKVQ HELDEAEERA DIAESQVNKL 

      1930 
RAKSRDIGTK GLNEE 

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References

« Hide 'large scale' references
[1]"The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product."
Jaenicke T., Diederich K.W., Haas W., Schleich J., Lichter P., Pfordt M., Bach A., Vosberg H.P.
Genomics 8:194-206(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT SER-1124.
[2]"Complete sequence and organization of the human cardiac beta-myosin heavy chain gene."
Liew C.-C., Sole M.J., Yamauchi-Takihara K., Kellam B., Anderson D.H., Lin L., Liew J.
Nucleic Acids Res. 18:3647-3651(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLU-107.
[3]"The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein."
Wendel B., Reinhard R., Wachtendorf U., Zacharzowsky U.B., Osterziel K.J., Schulte H.D., Haase H., Hoehe M.R., Morano I.
J. Cell. Biochem. 79:566-575(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Diverse clinicopathologic profiles and determinants of progressive heart failure in hypertrophic cardiomyopathy."
Smaniotto G., Melacini P.
Submitted (MAY-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]NHLBI resequencing and genotyping service (RS&G)
Submitted (DEC-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"Characterization of human cardiac myosin heavy chain genes."
Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.
Proc. Natl. Acad. Sci. U.S.A. 86:3504-3508(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-176, VARIANT GLU-107.
[9]Erratum
Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.
Proc. Natl. Acad. Sci. U.S.A. 86:7416-7417(1989)
[10]"Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy."
Cuda G., Fananapazir L., Zhu W.S., Sellers J.R., Epstein N.D.
J. Clin. Invest. 91:2861-2865(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 370-434, TISSUE SPECIFICITY, VARIANT GLN-403.
Tissue: Skeletal muscle.
[11]"Isolation and characterization of the complete human beta-myosin heavy chain gene."
Diederich K.W., Eisele I., Ried T., Jaenicke T., Lichter P., Vosberg H.P.
Hum. Genet. 81:214-220(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 653-720.
[12]"Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle."
Lichter P., Umeda P.K., Levin J.E., Vosberg H.P.
Eur. J. Biochem. 160:419-426(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 684-721; 975-1111 AND 1853-1935.
[13]"Identification of three developmentally controlled isoforms of human myosin heavy chains."
Bober E., Buchberger-Seidl A., Braun T., Singh S., Goedde H.W., Arnold H.H.
Eur. J. Biochem. 189:55-65(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 785-1935.
Tissue: Skeletal muscle.
[14]"Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle."
Saez L., Leinwand L.A.
Nucleic Acids Res. 14:2951-2969(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1310-1935.
[15]Leinwand L.A.
Submitted (MAR-1988) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[16]"Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA clone."
Jandreski M.A., Liew C.-C.
Hum. Genet. 76:47-53(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1393-1935.
[17]"Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium."
Kurabayashi M., Tsuchimochi H., Komuro I., Takaku F., Yazaki Y.
J. Clin. Invest. 82:524-531(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1412-1935.
[18]"Human cardiac myosin heavy chain genes and their linkage in the genome."
Saez L.J., Gianola K.M., McNally E.M., Feghali R., Eddy R., Shows T.B., Leinwand L.A.
Nucleic Acids Res. 15:5443-5459(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1854-1935.
[19]"Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy."
Arai S., Matsuoka R., Hirayama K., Sukurai H., Tamura M., Ozawa T., Kimura M., Imamura S., Furutani Y., Joh-o K., Kawana M., Takao A., Hosoda S., Momma K.
Am. J. Med. Genet. 58:267-276(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[20]"A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components."
Gorbea C., Pratt G., Ustrell V., Bell R., Sahasrabudhe S., Hughes R.E., Rechsteiner M.
J. Biol. Chem. 285:31616-31633(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ECM29.
[21]"A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation."
Geisterfer-Lowrance A.A.T., Kass S., Tanigawa G., Vosberg H.-P., McKenna W., Seidman C.E., Seidman J.G.
Cell 62:999-1006(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 GLN-403.
[22]"Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy."
Nishi H., Kimura A., Harada H., Toshima H., Sasazuki T.
Biochem. Biophys. Res. Commun. 188:379-387(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 ASN-615.
[23]"Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-->Val mutation and a 403Arg-->Gln mutation."
Epstein N.D., Cohn G.M., Cyran F., Fananapazir L.
Circulation 86:345-352(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLN-403 AND VAL-908.
[24]"Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy."
Watkins H., Rosenzweig A., Hwang D.S., Levi T., McKenna W., Seidmann C.E., Seidmann J.G.
N. Engl. J. Med. 326:1108-1114(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLN-249; GLN-403; CYS-453 AND MET-606.
[25]"Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy."
Watkins H., Thierfelder L., Anan R., Jarcho J., Matsumori A., McKenna W., Seidman J.G., Seidman C.E.
Am. J. Hum. Genet. 53:1180-1185(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLN-403; CYS-453; ARG-584 AND MET-606.
[26]"A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families."
Harada H., Kimura A., Nishi H., Sasazuki T., Toshima H.
Biochem. Biophys. Res. Commun. 194:791-798(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 GLY-778.
[27]"Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy."
Al-Mahdawi S., Chamberlain S., Cleland J., Nihoyannopoulos P., Gilligan D., French J., Choudhury L., Williamson R., Oakley C.
Br. Heart J. 69:136-141(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 VAL-908.
[28]"Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy."
Moolman J.C., Brink P.A., Corfield V.A.
Hum. Mol. Genet. 2:1731-1732(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 TRP-403.
[29]"Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene."
Dausse E., Komajda M., Fetler L., Dubourg O., Dufour C., Carrier L., Wisnewsky C., Bercovici J., Hengstenberg C., Al-Mahdawi S.
J. Clin. Invest. 92:2807-2813(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 LEU-403 AND TRP-403.
[30]"Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy."
Fananapazir L., Dalakas M.C., Cyran F., Cohn G., Epstein N.D.
Proc. Natl. Acad. Sci. U.S.A. 90:3993-3997(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLU-256 AND ARG-741.
[31]"A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy."
Consevage M.W., Salada G.C., Baylen B.G., Ladda R.L., Rogan P.K.
Hum. Mol. Genet. 3:1025-1026(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 GLN-719.
[32]"Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy."
Greve G., Bachinski L., Friedman D.L., Czernuzewicz G., Anan R., Towbin J.A., Seidman C.E., Roberts R.
Hum. Mol. Genet. 3:2073-2075(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 TRP-719.
[33]"Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy."
Anan R., Greve G., Thierfelder L., Watkins H., McKenna W., Solomon S., Vecchio C., Shono H., Nakao S., Tanaka H., Mares A. Jr., Towbin J.A., Spirito P., Roberts R., Seidman J.G., Seidman C.E.
J. Clin. Invest. 93:280-285(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 CYS-513; ARG-716 AND TRP-719.
[34]"Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy."
Moolman J.C., Brink P.A., Corfield V.A.
Hum. Mutat. 6:197-198(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 THR-797.
[35]"Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy."
Rayment I., Holden H.M., Sellers J.R., Fananapazir L., Epstein N.D.
Proc. Natl. Acad. Sci. U.S.A. 92:3864-3868(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 ILE-124; CYS-162; LYS-187; LYS-222; LEU-244; HIS-663; ASN-782 AND HIS-870.
[36]"Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure."
Ko Y.-L., Chen J.-J., Tang T.-K., Cheng J.-J., Lin S.-Y., Liou Y.-C., Kuan P., Wu C.-W., Lien W.-P., Liew C.-C.
Hum. Genet. 97:585-590(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 CYS-453.
[37]"Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy."
Kuang S.-Q., Yu J.-D., Lu L., He L.-M., Gong L.-S., Chen S.-J., Chen Z.
J. Mol. Cell. Cardiol. 28:1879-1883(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 ASN-383.
[38]"Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure."
Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B., Marangoni E., Banfi P., Banchieri N., Bellini O., Comi G., Narula J., Campana C., Gavazzi A., Danesino C., Vigano M.
Heart 80:548-558(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLN-249 AND GLU-450.
[39]Erratum
Arbustini E., Fasani R., Morbini P., Diegoli M., Grasso M., Dal Bello B., Marangoni E., Banfi P., Banchieri N., Bellini O., Comi G., Narula J., Campana C., Gavazzi A., Danesino C., Vigano M.
Heart 81:330-330(1999)
[40]"A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes."
Jeschke B., Uhl K., Weist B., Schroder D., Meitinger T., Dohlemann C., Vosberg H.-P.
Hum. Genet. 102:299-304(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 THR-349 AND TRP-719.
[41]"Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy."
Tesson F., Richard P., Charron P., Mathieu B., Cruaud C., Carrier L., Dubourg O., Lautie N., Desnos M., Millaire A., Isnard R., Hagege A.A., Bouhour J.-B., Bennaceur M., Hainque B., Guicheney P., Schwartz K., Komajda M.
Hum. Mutat. 12:385-392(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 THR-263; TRP-719; CYS-723 AND GLU-930 DEL.
[42]"The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population."
Jaeaeskelaeinen P., Soranta M., Miettinen R., Saarinen L., Pihlajamaeki J., Silvennoinen K., Tikanoja T., Laakso M., Kuusisto J.
J. Am. Coll. Cardiol. 32:1709-1716(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 SER-696 AND TRP-719.
[43]"The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events."
Moolman-Smook J.C., De Lange W.J., Bruwer E.C.D., Brink P.A., Corfield V.A.
Am. J. Hum. Genet. 65:1308-1320(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 TRP-403; LYS-499; GLN-719 AND THR-797.
[44]"Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene."
Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J., Kjeldsen K., Christiansen M.
Clin. Genet. 56:244-246(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 CYS-694.
[45]"Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain."
Bundgaard H., Havndrup O., Andersen P.S., Larsen L.A., Brandt N.J., Vuust J., Kjeldsen K., Christiansen M.
J. Mol. Cell. Cardiol. 31:745-750(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 THR-190.
[46]"A novel missense mutation (R712L) adjacent to the 'active thiol' region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family."
Sakthivel S., Joseph P.K., Tharakan J.M., Vosberg H.-P., Rajamanickam C.
Hum. Mutat. 15:298-299(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 LEU-712.
[47]"Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy."
Anan R., Shono H., Tei C.
Hum. Mutat. 15:584-584(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 CYS-869 AND CYS-870.
[48]"Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene."
Enjuto M., Francino A., Navarro-Lopez F., Viles D., Pare J.-C., Ballesta A.M.
J. Mol. Cell. Cardiol. 32:2307-2313(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 GLY-723.
[49]"Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy."
Kamisago M., Sharma S.D., DePalma S.R., Solomon S., Sharma P., McDonough B., Smoot L., Mullen M.P., Woolf P.K., Wigle E.D., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 343:1688-1696(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1S PRO-532 AND LEU-764.
[50]"A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy."
Havndrup O., Bundgaard H., Andersen P.S., Larsen L.A., Vuust J., Kjeldsen K., Christiansen M.
Scand. Cardiovasc. J. 34:558-563(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 VAL-390.
[51]"The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation."
Davis J.S., Hassanzadeh S., Winitsky S., Lin H., Satorius C., Vemuri R., Aletras A.H., Wen H., Epstein N.D.
Cell 107:631-641(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 ASP-743.
[52]"Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy."
Blair E., Price S.J., Baty C.J., Oestman-Smith I., Watkins H.
J. Med. Genet. 38:385-388(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 VAL-728.
[53]"Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children."
Greber-Platzer S., Marx M., Fleischmann C., Suppan C., Dobner M., Wimmer M.
J. Mol. Cell. Cardiol. 33:141-148(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLN-249; MET-406; CYS-453; MET-606; HIS-663 AND LYS-877.
[54]"Novel mutations in sarcomeric protein genes in dilated cardiomyopathy."
Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Hummel M., Hetzer R., Regitz-Zagrosek V.
Biochem. Biophys. Res. Commun. 298:116-120(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1S THR-223 AND LEU-642.
[55]"Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy."
Ho C.Y., Sweitzer N.K., McDonough B., Maron B.J., Casey S.A., Seidman J.G., Seidman C.E., Solomon S.D.
Circulation 105:2992-2997(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906.
[56]"Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy."
Blair E., Redwood C., de Jesus Oliveira M., Moolman-Smook J.C., Brink P., Corfield V.A., Oestman-Smith I., Watkins H.
Circ. Res. 90:263-269(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 THR-1379 AND GLY-1776, VARIANT CYS-1491.
[57]"Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy."
Waldmueller S., Freund P., Mauch S., Toder R., Vosberg H.-P.
Hum. Mutat. 19:560-569(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLN-249; THR-349; GLN-403; ARG-595; MET-606; GLN-719; TRP-719; GLU-927 DEL AND LYS-1555.
[58]"Myosin storage myopathy associated with a heterozygous missense mutation in MYH7."
Tajsharghi H., Thornell L.-E., Lindberg C., Lindvall B., Henriksson K.-G., Oldfors A.
Ann. Neurol. 54:494-500(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MYOMS TRP-1845.
[59]"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
Nanni L., Pieroni M., Chimenti C., Simionati B., Zimbello R., Maseri A., Frustaci A., Lanfranchi G.
Biochem. Biophys. Res. Commun. 309:391-398(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 CYS-453; MET-517 AND GLU-734.
[60]"Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations."
Havndrup O., Bundgaard H., Andersen P.S., Larsen L.A., Vuust J., Kjeldsen K., Christiansen M.
Cardiovasc. Res. 57:347-357(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 THR-190; MET-320; VAL-390; VAL-601; MET-606; CYS-694; GLU-778 AND GLN-846.
[61]"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy."
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382 AND THR-1777, VARIANT MET-1692.
[62]Erratum
Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., Benaiche A., Isnard R., Dubourg O., Burban M., Gueffet J.-P., Millaire A., Desnos M., Schwartz K., Hainque B., Komajda M.
Circulation 109:3258-3258(2004)
[63]"Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy."
Erdmann J., Daehmlow S., Wischke S., Senyuva M., Werner U., Raible J., Tanis N., Dyachenko S., Hummel M., Hetzer R., Regitz-Zagrosek V.
Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 TRP-143; TRP-403; ILE-411; SER-584; HIS-694; TRP-719; THR-736; PHE-796; ILE-824; HIS-870; PHE-905; GLN-924 AND ASN-928.
[64]"Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations."
Mohiddin S.A., Begley D.A., McLam E., Cardoso J.-P., Winkler J.B., Sellers J.R., Fananapazir L.
Genet. Test. 7:21-27(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908.
[65]"Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis."
Woo A., Rakowski H., Liew J.C., Zhao M.-S., Liew C.-C., Parker T.G., Zeller M., Wigle E.D., Sole M.J.
Heart 89:1179-1185(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 THR-196; LEU-211; GLN-249; GLN-403; LEU-404; ILE-411; CYS-453; ARG-716; CYS-870; VAL-908 AND LYS-930.
[66]"Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain."
Moric E., Mazurek U., Polonska J., Domal-Kwiatkowska D., Smolik S., Kozakiewicz K., Tendera M., Wilczok T.
J. Appl. Genet. 44:103-109(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 VAL-774 AND ASN-782.
[67]"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
Moerner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., Waldenstroem A.
J. Mol. Cell. Cardiol. 35:841-849(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 GLU-430 AND LYS-924.
[68]Richard P.
Unpublished observations (OCT-2004)
Cited for: LACK OF ASSOCIATION OF VARIANT MET-1692 WITH HYPERTROPHIC CARDIOMYOPATHY.
[69]"Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)."
Meredith C., Herrmann R., Parry C., Liyanage K., Dye D.E., Durling H.J., Duff R.M., Beckman K., de Visser M., van der Graaff M.M., Hedera P., Fink J.K., Petty E.M., Lamont P., Fabian V., Bridges L., Voit T., Mastaglia F.L., Laing N.G.
Am. J. Hum. Genet. 75:703-708(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MPD1 PRO-1500; LYS-1617 DEL; PRO-1663; PRO-1706 AND LYS-1729 DEL.
[70]"Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy."
Van Driest S.L., Jaeger M.A., Ommen S.R., Will M.L., Gersh B.J., Tajik A.J., Ackerman M.J.
J. Am. Coll. Cardiol. 44:602-610(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929, VARIANTS CYS-1491 AND ASN-1919.
[71]"Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy."
Bohlega S., Abu-Amero S.N., Wakil S.M., Carroll P., Al-Amr R., Lach B., Al-Sayed Y., Cupler E.J., Meyer B.F.
Neurology 62:1518-1521(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MYOMS LEU-1901.
[72]"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
Song L., Zou Y., Wang J., Wang Z., Zhen Y., Lou K., Zhang Q., Wang X., Wang H., Li J., Hui R.
Clin. Chim. Acta 351:209-216(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 VAL-26; GLN-143; ARG-425; THR-450; PHE-511; GLN-615; CYS-663; HIS-663; PRO-734; ARG-741; THR-822; GLU-823; HIS-858; LYS-924 AND LYS-930.
[73]"Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene."
Villard E., Duboscq-Bidot L., Charron P., Benaiche A., Conraads V., Sylvius N., Komajda M.
Eur. Heart J. 26:794-803(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1S THR-201; ASN-412; VAL-550; ASN-1019; SER-1193; LYS-1426 AND CYS-1634, VARIANT CYS-1491.
[74]"One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in MYH7 rod region."
Hougs L., Havndrup O., Bundgaard H., Koeber L., Vuust J., Larsen L.A., Christiansen M., Andersen P.S.
Eur. J. Hum. Genet. 13:161-165(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 LYS-1327; TRP-1712 AND LYS-1753, VARIANTS CYS-1475 AND CYS-1491.
[75]"Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease."
Yu B., Sawyer N.A., Caramins M., Yuan Z.G., Saunderson R.B., Pamphlett R., Richmond D.R., Jeremy R.W., Trent R.J.
J. Clin. Pathol. 58:479-485(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 VAL-227; GLY-328; GLU-351; GLN-403; TRP-403; ILE-411; THR-435; CYS-453; HIS-453; MET-606; CYS-663; GLN-719; TRP-719; HIS-787; GLY-894; VAL-908 AND LYS-927, VARIANT CYS-1519.
[76]"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
Ingles J., Doolan A., Chiu C., Seidman J., Seidman C., Semsarian C.
J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057.
[77]"Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy."
Perrot A., Schmidt-Traub H., Hoffmann B., Prager M., Bit-Avragim N., Rudenko R.I., Usupbaeva D.A., Kabaeva Z., Imanov B., Mirrakhimov M.M., Dietz R., Wycisk A., Tendera M., Gessner R., Osterziel K.J.
J. Mol. Med. 83:468-477(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736; TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454.
[78]"Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy."
Tanjore R.R., Sikindlapuram A.D., Calambur N., Thakkar B., Kerkar P.G., Nallari P.
Clin. Genet. 69:434-436(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 HIS-870.
[79]"Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene."
Mora R., Merino J.L., Peinado R., Olias F., Garcia-Guereta L., del Cerro M.J., Tarin M.N., Molano J.
Rev. Esp. Cardiol. 59:846-849(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 VAL-515 AND CYS-858.
[80]"Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy."
Tajsharghi H., Oldfors A., Macleod D.P., Swash M.
Neurology 68:962-962(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMH1 LYS-1883.
[81]"New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7."
Darin N., Tajsharghi H., Oestman-Smith I., Gilljam T., Oldfors A.
Neurology 68:2041-2042(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MPD1 MET-441.
[82]"MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy."
Pegoraro E., Gavassini B.F., Borsato C., Melacini P., Vianello A., Stramare R., Cenacchi G., Angelini C.
Neuromuscul. Disord. 17:321-329(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MYOMS TRP-1845, VARIANT SPMM TRP-1845.
[83]"Shared genetic causes of cardiac hypertrophy in children and adults."
Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E., Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMH1 ASN-146; MET-606; HIS-663; GLN-719; MET-763; CYS-787; VAL-908; LYS-924 AND MET-1414.
[84]"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Millat G., Bouvagnet P., Chevalier P., Sebbag L., Dulac A., Dauphin C., Jouk P.S., Delrue M.A., Thambo J.B., Le Metayer P., Seronde M.F., Faivre L., Eicher J.C., Rousson R.
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1S 1101-GLY--LEU-1104 DEL; ALA-1044; GLU-1263 AND VAL-1297.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M57965 Genomic DNA. Translation: AAA51837.1.
M58018 mRNA. Translation: AAA62830.1.
X52889 Genomic DNA. Translation: CAA37068.1.
AJ238393 Genomic DNA. Translation: CAC20413.1.
EU747717 mRNA. Translation: ACH92815.1.
EF179180 Genomic DNA. Translation: ABN05283.1.
CH471078 Genomic DNA. Translation: EAW66152.1.
BC112171 mRNA. Translation: AAI12172.1.
BC112173 mRNA. Translation: AAI12174.1.
M25135, M25133, M25134 Genomic DNA. Translation: AAA60384.1.
M27636 Genomic DNA. Translation: AAA79019.1.
X04627 expand/collapse EMBL AC list , X04628, X04629, X04630, X04631, X04632, X04633 Genomic DNA. Translation: CAA28300.1.
X51591 mRNA. Translation: CAA35940.1.
X03741 mRNA. Translation: CAA27381.1. Sequence problems.
X06976 mRNA. Translation: CAA30039.1.
M17712 mRNA. Translation: AAA36343.1.
M21665 mRNA. Translation: AAA36345.1.
X05631 mRNA. Translation: CAA29119.1.
CCDSCCDS9601.1.
PIRA37102.
RefSeqNP_000248.2. NM_000257.2.
XP_005267753.1. XM_005267696.1.
UniGeneHs.719946.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1IK2model-A1-841[»]
2FXMX-ray2.70A/B838-963[»]
2FXOX-ray2.50A/B/C/D838-963[»]
3DTPelectron microscopy20.00A842-961[»]
B842-963[»]
4DB1X-ray2.60A/B2-783[»]
4P7HX-ray3.20A/B1-787[»]
ProteinModelPortalP12883.
SMRP12883. Positions 2-963.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110710. 6 interactions.
IntActP12883. 7 interactions.
MINTMINT-1512407.

PTM databases

PhosphoSiteP12883.

Polymorphism databases

DMDM83304912.

2D gel databases

UCD-2DPAGEP12883.
Q92679.

Proteomic databases

MaxQBP12883.
PaxDbP12883.
PRIDEP12883.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355349; ENSP00000347507; ENSG00000092054.
GeneID4625.
KEGGhsa:4625.
UCSCuc001wjx.3. human.

Organism-specific databases

CTD4625.
GeneCardsGC14M023881.
GeneReviewsMYH7.
H-InvDBHIX0172409.
HGNCHGNC:7577. MYH7.
HPACAB015384.
HPA001239.
HPA001349.
MIM160500. phenotype.
160760. gene.
181430. phenotype.
192600. phenotype.
608358. phenotype.
613426. phenotype.
neXtProtNX_P12883.
Orphanet324604. Classic multiminicore myopathy.
1880. Ebstein malformation.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
53698. Hyaline body myopathy.
59135. Laing early-onset distal myopathy.
54260. Left ventricular noncompaction.
PharmGKBPA31374.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5022.
HOVERGENHBG004704.
KOK17751.
OMAITAIQAR.
OrthoDBEOG7RBZ7G.
PhylomeDBP12883.
TreeFamTF314375.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressP12883.
BgeeP12883.
GenevestigatorP12883.

Family and domain databases

Gene3D4.10.270.10. 1 hit.
InterProIPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYH7. human.
EvolutionaryTraceP12883.
GeneWikiMYH7.
GenomeRNAi4625.
NextBio17802.
PROP12883.
SOURCESearch...

Entry information

Entry nameMYH7_HUMAN
AccessionPrimary (citable) accession number: P12883
Secondary accession number(s): A2TDB6 expand/collapse secondary AC list , B6D424, Q14836, Q14837, Q14904, Q16579, Q2M1Y6, Q92679, Q9H1D5, Q9UDA2, Q9UMM8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: December 6, 2005
Last modified: July 9, 2014
This is version 177 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM