P12883 (MYH7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1935 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › myofibril. 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 is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.
Sequence similarities	Contains 1 IQ domain. Contains 1 myosin head-like domain.
Caution	Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7 (MYO7).

Ontologies

Keywords
Cellular component	Cytoplasm Thick filament
Coding sequence diversity	Polymorphism
Disease	Cardiomyopathy Disease mutation
Domain	Coiled coil
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Muscle protein Myosin
PTM	Isopeptide bond Methylation Ubl conjugation
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult heart development Inferred from mutant phenotype Ref.77. 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 ventricular cardiac muscle tissue morphogenesis Inferred from mutant phenotype PubMed 16754800. Source: BHF-UCL
Cellular_component	Z disc Inferred from electronic annotation. Source: Compara focal adhesion Inferred from direct assay. Source: HPA muscle myosin complex Traceable author statement Ref.12. Source: UniProtKB myosin filament Inferred from direct assay PubMed 19336582. Source: BHF-UCL nucleolus Inferred from direct assay. Source: HPA sarcomere Traceable author statement PubMed 16754800. Source: BHF-UCL stress fiber Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW actin-dependent ATPase activity Inferred from mutant phenotype PubMed 16088376. Source: HGNC microfilament motor activity Non-traceable author statement Ref.12. Source: UniProtKB structural constituent of muscle Inferred from direct assay PubMed 15621050PubMed 16088376. Source: HGNC
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1935

1935

Myosin-7

PRO_0000123407

Regions

Domain

1 – 780

780

Myosin head-like

Domain

781 – 810

30

IQ

Nucleotide binding

178 – 185

8

ATP

Region

655 – 677

23

Actin-binding

Region

757 – 771

15

Actin-binding

Coiled coil

839 – 1935

1097

Potential

Amino acid modifications

Modified residue

129

1

N6,N6,N6-trimethyllysine Potential

Cross-link

207

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Cross-link

213

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Cross-link

1531

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Cross-link

1537

Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Natural variations

Natural variant

3

1

D → A.
Corresponds to variant rs3729993 [ dbSNP | Ensembl ].

VAR_029430

Natural variant

26

1

A → V in CMH1. Ref.72

VAR_004566

Natural variant

39

1

V → M in CMH1. Ref.61

VAR_019845

Natural variant

59

1

V → I in CMH1.

VAR_004567

Natural variant

107

1

D → E. Ref.2 Ref.8
Corresponds to variant rs2754166 [ dbSNP | Ensembl ].

VAR_017745

Natural variant

115

1

Y → H in CMH1. Ref.70

VAR_042762

Natural variant

124

1

T → I in CMH1. Ref.35

VAR_020797

Natural variant

143

1

R → G in CMH1. Ref.64

VAR_042763

Natural variant

143

1

R → Q in CMH1. Ref.70 Ref.72

VAR_004568

Natural variant

143

1

R → W in CMH1. Ref.63

VAR_029431

Natural variant

146

1

K → N in CMH1. Ref.76 Ref.83

VAR_042764

Natural variant

148

1

S → I in CMH1. Ref.64

VAR_042765

Natural variant

162

1

Y → C in CMH1. Ref.35

VAR_020798

Natural variant

186

1

V → L in CMH1. Ref.76

VAR_042766

Natural variant

187

1

N → K in CMH1. Ref.35

VAR_020799

Natural variant

188

1

T → N in CMH1. Ref.61

VAR_019846

Natural variant

190

1

R → T in CMH1. Ref.45 Ref.60

VAR_020800

Natural variant

196

1

A → T in CMH1. Ref.65

VAR_042767

Natural variant

201

1

I → T in CMD1S. Ref.73

VAR_042768

Natural variant

204

1

R → H in CMH1. Ref.61

VAR_019847

Natural variant

207

1

K → Q in CMH1. Ref.64

VAR_042769

Natural variant

211

1

P → L in CMH1. Ref.64 Ref.65 Ref.77

VAR_042770

Natural variant

222

1

Q → K in CMH1. Ref.35

VAR_020801

Natural variant

223

1

A → T in CMD1S. Ref.54

VAR_017746

Natural variant

227

1

L → V in CMH1. Ref.75

VAR_042771

Natural variant

232

1

N → S in CMH1. Ref.61

VAR_019848

Natural variant

244

1

F → L in CMH1. Ref.35

VAR_020802

Natural variant

249

1

R → Q in CMH1. Ref.24 Ref.38 Ref.53 Ref.57 Ref.61 Ref.65
Corresponds to variant rs3218713 [ dbSNP | Ensembl ].

VAR_004569

Natural variant

256

1

G → E in CMH1. Ref.30

VAR_004570

Natural variant

263

1

I → M in CMH1. Ref.70

VAR_042772

Natural variant

263

1

I → T in CMH1. Ref.41 Ref.61

VAR_004571

Natural variant

312

1

F → C in CMH1. Ref.70

VAR_042773

Natural variant

320

1

V → M in CMH1. Ref.60

VAR_020803

Natural variant

328

1

E → G in CMH1. Ref.75

VAR_042774

Natural variant

349

1

M → T in CMH1. Ref.40 Ref.57 Ref.70

VAR_004572

Natural variant

351

1

K → E in CMH1. Ref.64 Ref.75

VAR_042775

Natural variant

355

1

A → T in CMH1. Ref.61

VAR_019849

Natural variant

383

1

K → N in CMH1. Ref.37

VAR_042776

Natural variant

385

1

A → V in CMH1. Ref.70

VAR_042777

Natural variant

390

1

L → V in CMH1. Ref.50 Ref.60

VAR_020804

Natural variant

403

1

R → L in CMH1. Ref.29 Ref.61

VAR_004573

Natural variant

403

1

R → 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 variant

403

1

R → 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 variant

404

1

V → L in CMH1. Ref.65

VAR_042778

Natural variant

404

1

V → M in CMH1. Ref.70

VAR_042779

Natural variant

406

1

V → M in CMH1. Ref.53

VAR_020805

Natural variant

407

1

G → V in CMH1. Ref.70

VAR_042780

Natural variant

411

1

V → I in CMH1. Ref.63 Ref.65 Ref.75

VAR_029432

Natural variant

412

1

T → N in CMD1S. Ref.73

VAR_042781

Natural variant

425

1

G → R in CMH1. Ref.72

VAR_042782

Natural variant

428

1

A → V in CMH1. Ref.61 Ref.70

VAR_019850

Natural variant

430

1

A → E in CMH1. Ref.67

VAR_029433

Natural variant

435

1

M → T in CMH1. Ref.75

VAR_042783

Natural variant

440

1

V → M in CMH1. Ref.70

VAR_042784

Natural variant

441

1

T → M in MPD1. Ref.81

VAR_042785

Natural variant

443

1

I → T in CMH1. Ref.61

VAR_019851

Natural variant

450

1

K → E in CMH1. Ref.38

VAR_042786

Natural variant

450

1

K → T in CMH1. Ref.72

VAR_042787

Natural variant

453

1

R → 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 variant

453

1

R → H in CMH1. Ref.75

VAR_042788

Natural variant

466

1

E → Q.
Corresponds to variant rs4981473 [ dbSNP | Ensembl ].

VAR_029434

Natural variant

479

1

N → S in CMH1. Ref.61 Ref.64

VAR_019852

Natural variant

483

1

E → K in CMH1. Ref.61

VAR_019853

Natural variant

499

1

E → K in CMH1. Ref.43
Corresponds to variant rs3218715 [ dbSNP | Ensembl ].

VAR_020806

Natural variant

500

1

E → A in CMH1. Ref.64

VAR_042789

Natural variant

501

1

Y → C in CMH1. Ref.77

VAR_042790

Natural variant

511

1

I → F in CMH1. Ref.72

VAR_042791

Natural variant

511

1

I → T in CMH1. Ref.70

VAR_042792

Natural variant

513

1

F → C in CMH1. Ref.33

VAR_004577

Natural variant

515

1

M → R in CMH1. Ref.70

VAR_042793

Natural variant

515

1

M → V in CMH1; infrequent. Ref.79

VAR_039562

Natural variant

517

1

L → M in CMH1. Ref.59

VAR_029435

Natural variant

532

1

S → P in CMD1S. Ref.49

VAR_017747

Natural variant

550

1

A → V in CMD1S. Ref.73

VAR_042794

Natural variant

571

1

G → R in CMH1. Ref.64

VAR_042795

Natural variant

576

1

H → R in CMH1. Ref.77

VAR_042796

Natural variant

584

1

G → R in CMH1. Ref.25

VAR_004578

Natural variant

584

1

G → S in CMH1. Ref.63

VAR_029436

Natural variant

587

1

D → V in CMH1.

VAR_004579

Natural variant

595

1

Q → R in CMH1. Ref.57

VAR_020807

Natural variant

601

1

L → V in CMH1. Ref.60

VAR_020808

Natural variant

602

1

N → S in CMH1.

VAR_004580

Natural variant

606

1

V → 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 variant

615

1

K → N in CMH1. Ref.22

VAR_004582

Natural variant

615

1

K → Q in CMH1. Ref.72

VAR_042797

Natural variant

642

1

S → L in CMD1S. Ref.54

VAR_017748

Natural variant

659

1

M → I in CMH1. Ref.61

VAR_019854

Natural variant

663

1

R → C in CMH1. Ref.70 Ref.72 Ref.75

VAR_042798

Natural variant

663

1

R → H in CMH1. Ref.35 Ref.53 Ref.55 Ref.61 Ref.64 Ref.70 Ref.72 Ref.76 Ref.83

VAR_019855

Natural variant

663

1

R → S in CMH1. Ref.61

VAR_019856

Natural variant

671

1

R → C in CMH1. Ref.61 Ref.64

VAR_019857

Natural variant

694

1

R → C in CMH1. Ref.44 Ref.60 Ref.70

VAR_020809

Natural variant

694

1

R → H in CMH1. Ref.63

VAR_029437

Natural variant

696

1

N → S in CMH1. Ref.42

VAR_020810

Natural variant

698

1

V → A in CMH1. Ref.76

VAR_042799

Natural variant

712

1

R → L in CMH1. Ref.46

VAR_020811

Natural variant

716

1

G → R in CMH1. Ref.33 Ref.61 Ref.65 Ref.70

VAR_004583

Natural variant

719

1

R → Q in CMH1. Ref.31 Ref.43 Ref.57 Ref.61 Ref.70 Ref.75 Ref.76 Ref.83

VAR_017749

Natural variant

719

1

R → 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 variant

723

1

R → C in CMH1. Ref.41 Ref.61 Ref.76

VAR_004585

Natural variant

723

1

R → G in CMH1; malignant phenotype. Ref.48

VAR_020812

Natural variant

728

1

A → V in CMH1; in cis with M-606 gives a more severe phenotype. Ref.52

VAR_017750

Natural variant

731

1

P → L in CMH1.

VAR_004586

Natural variant

733

1

G → E in CMH1. Ref.61

VAR_019858

Natural variant

734

1

Q → E in CMH1. Ref.59

VAR_029438

Natural variant

734

1

Q → P in CMH1. Ref.72

VAR_042800

Natural variant

736

1

I → M in CMH1.

VAR_004587

Natural variant

736

1

I → T in CMH1. Ref.63 Ref.64 Ref.76 Ref.77

VAR_029439

Natural variant

741

1

G → R in CMH1. Ref.30 Ref.61 Ref.70 Ref.72

VAR_004588

Natural variant

741

1

G → W in CMH1. Ref.77

VAR_004589

Natural variant

742

1

A → E in CMH1. Ref.76

VAR_042801

Natural variant

743

1

E → D in CMH1. Ref.51

VAR_014199

Natural variant

763

1

V → G in CMH1. Ref.64

VAR_042802

Natural variant

763

1

V → M in CMH1. Ref.83

VAR_045926

Natural variant

764

1

F → L in CMD1S. Ref.49

VAR_017751

Natural variant

768

1

G → R in CMH1. Ref.55 Ref.61

VAR_019859

Natural variant

774

1

E → V in CMH1. Ref.66

VAR_042803

Natural variant

778

1

D → E in CMH1. Ref.60 Ref.61

VAR_019860

Natural variant

778

1

D → G in CMH1. Ref.26

VAR_004590

Natural variant

778

1

D → V in CMH1. Ref.70

VAR_042804

Natural variant

782

1

S → N in CMH1. Ref.35 Ref.64 Ref.66

VAR_020813

Natural variant

787

1

R → C in CMH1. Ref.83

VAR_045927

Natural variant

787

1

R → H in CMH1. Ref.61 Ref.75

VAR_019861

Natural variant

796

1

L → F in CMH1. Ref.63

VAR_029440

Natural variant

797

1

A → T in CMH1. Ref.34 Ref.43 Ref.70
Corresponds to variant rs3218716 [ dbSNP | Ensembl ].

VAR_004591

Natural variant

822

1

M → L in CMH1. Ref.64

VAR_042805

Natural variant

822

1

M → T in CMH1. Ref.72

VAR_042806

Natural variant

823

1

G → E in CMH1. Ref.72

VAR_042807

Natural variant

824

1

V → I in CMH1. Ref.63

VAR_029441

Natural variant

846

1

E → Q in CMH1. Ref.60

VAR_020814

Natural variant

847

1

Missing in CMH1. Ref.70

VAR_042808

Natural variant

852

1

M → T in CMH1. Ref.61

VAR_019862

Natural variant

858

1

R → C in CMH1; infrequent. Ref.70 Ref.79

VAR_039563

Natural variant

858

1

R → H in CMH1. Ref.72

VAR_042809

Natural variant

869

1

R → C in CMH1. Ref.47

VAR_020815

Natural variant

869

1

R → G in CMH1. Ref.61

VAR_019863

Natural variant

869

1

R → H in CMH1. Ref.70

VAR_042810

Natural variant

870

1

R → C in CMH1. Ref.47 Ref.65
Corresponds to variant rs36211715 [ dbSNP | Ensembl ].

VAR_020816

Natural variant

870

1

R → H in CMH1. Ref.35 Ref.63 Ref.78
Corresponds to variant rs36211715 [ dbSNP | Ensembl ].

VAR_004592

Natural variant

877

1

M → K in CMH1. Ref.53

VAR_020817

Natural variant

882

1

Q → E in CMH1. Ref.64

VAR_042811

Natural variant

883

1

Missing in CMH1. Ref.61

VAR_019864

Natural variant

894

1

E → G in CMH1. Ref.70 Ref.75

VAR_042812

Natural variant

901

1

A → G in CMH1. Ref.77

VAR_042813

Natural variant

905

1

C → F in CMH1. Ref.63

VAR_029442

Natural variant

906

1

D → G in CMH1. Ref.55

VAR_042814

Natural variant

908

1

L → V in CMH1. Ref.23 Ref.27 Ref.64 Ref.65 Ref.70 Ref.75 Ref.83

VAR_004593

Natural variant

921

1

E → K in CMH1. Ref.70

VAR_042815

Natural variant

924

1

E → K in CMH1. Ref.67 Ref.70 Ref.72 Ref.83

VAR_004594

Natural variant

924

1

E → Q in CMH1. Ref.63

VAR_029443

Natural variant

927

1

E → K in CMH1. Ref.75

VAR_042816

Natural variant

927

1

Missing in CMH1. Ref.57

VAR_020818

Natural variant

928

1

D → N in CMH1. Ref.63 Ref.77

VAR_029444

Natural variant

930

1

E → K in CMH1. Ref.65 Ref.72

VAR_004595

Natural variant

930

1

Missing in CMH1. Ref.41 Ref.61

VAR_004596

Natural variant

931

1

E → K in CMH1. Ref.70

VAR_042817

Natural variant

935

1

E → K in CMH1.

VAR_004597

Natural variant

949

1

E → K in CMH1.

VAR_004598

Natural variant

953

1

D → H in CMH1. Ref.70

VAR_042818

Natural variant

1019

1

T → N in CMD1S. Ref.73

VAR_042819

Natural variant

1044

1

V → A in CMD1S. Ref.84

VAR_067260

Natural variant

1057

1

G → D in CMH1. Ref.76

VAR_042820

Natural variant

1057

1

G → S in CMH1. Ref.70

VAR_042821

Natural variant

1101 – 1104

4

Missing in CMD1S.

VAR_067261

Natural variant

1124

1

A → S. Ref.1
Corresponds to variant rs1041961 [ dbSNP | Ensembl ].

VAR_017753

Natural variant

1135

1

L → R in CMH1. Ref.61

VAR_019865

Natural variant

1193

1

R → S in CMD1S. Ref.73

VAR_042822

Natural variant

1218

1

E → Q in CMH1. Ref.61

VAR_019866

Natural variant

1263

1

A → E in CMD1S. Ref.84

VAR_067262

Natural variant

1297

1

L → V in CMD1S. Ref.84

VAR_067263

Natural variant

1327

1

N → K in CMH1. Ref.74

VAR_042823

Natural variant

1356

1

E → K in CMH1. Ref.70 Ref.77

VAR_042824

Natural variant

1377

1

T → M in CMH1. Ref.61 Ref.70

VAR_019867

Natural variant

1379

1

A → T in CMH1. Ref.56 Ref.61

VAR_019868

Natural variant

1382

1

R → W in CMH1. Ref.61

VAR_019869

Natural variant

1414

1

L → M in CMH1. Ref.83

VAR_045928

Natural variant

1420

1

R → W in CMH1. Ref.70

VAR_042825

Natural variant

1426

1

E → K in CMD1S. Ref.73

VAR_042826

Natural variant

1454

1

A → T in CMH1. Ref.77

VAR_042827

Natural variant

1459

1

K → N in CMH1. Ref.70

VAR_042828

Natural variant

1475

1

R → C. Ref.74

VAR_042829

Natural variant

1491

1

S → C. Ref.56 Ref.70 Ref.73 Ref.74
Corresponds to variant rs3729823 [ dbSNP | Ensembl ].

VAR_020819

Natural variant

1500

1

R → P in MPD1. Ref.69

VAR_022369

Natural variant

1513

1

T → S in CMH1. Ref.70

VAR_042830

Natural variant

1519

1

S → C. Ref.75

VAR_042831

Natural variant

1555

1

E → K in CMH1. Ref.57

VAR_020820

Natural variant

1617

1

Missing in MPD1. Ref.69

VAR_042832

Natural variant

1634

1

R → C in CMD1S. Ref.73

VAR_042833

Natural variant

1663

1

A → P in MPD1. Ref.69

VAR_022370

Natural variant

1692

1

V → M Probable polymorphism; has been originally reported as a hypertrophic cardiomyopathy mutation. Ref.61 Ref.68

VAR_019870

Natural variant

1706

1

L → P in MPD1. Ref.69

VAR_022371

Natural variant

1712

1

R → W in CMH1. Ref.74

VAR_042834

Natural variant

1729

1

Missing in MPD1. Ref.69

VAR_042835

Natural variant

1753

1

E → K in CMH1. Ref.74

VAR_042836

Natural variant

1768

1

E → K in CMH1. Ref.70

VAR_042837

Natural variant

1776

1

S → G in CMH1. Ref.56

VAR_020821

Natural variant

1777

1

A → T in CMH1. Ref.61

VAR_019871

Natural variant

1845

1

R → W in MYOMS and SPMM. Ref.58 Ref.82
Corresponds to variant rs28933098 [ dbSNP | Ensembl ].

VAR_017754

Natural variant

1854

1

T → M in CMH1. Ref.70

VAR_042838

Natural variant

1883

1

E → K in CMH1. Ref.80

VAR_042839

Natural variant

1901

1

H → L in MYOMS. Ref.71

VAR_042840

Natural variant

1919

1

K → N. Ref.70

VAR_042841

Natural variant

1929

1

T → M in CMH1. Ref.70

VAR_042842

Experimental info

Sequence conflict

88

1

E → Q in AAA60384. Ref.8

Sequence conflict

397

1

K → G Ref.10

Sequence conflict

672 – 674

3

CII → LYH in CAA37068. Ref.2

Sequence conflict

858

1

R → A in CAA37068. Ref.2

Sequence conflict

942 – 943

2

KL → NV in CAA37068. Ref.2

Sequence conflict

1077

1

D → E in CAA35940. Ref.13

Sequence conflict

1159

1

V → C in CAA37068. Ref.2

Sequence conflict

1159

1

V → C in CAC20413. Ref.3

Sequence conflict

1207

1

I → M in ACH92815. Ref.4

Sequence conflict

1313

1

E → G in CAA27381. Ref.14

Sequence conflict

1356

1

E → R in CAA27381. Ref.14

Sequence conflict

1359 – 1360

2

RV → GD in CAA27381. Ref.14

Sequence conflict

1575 – 1576

2

KL → NV in AAA36345. Ref.17

Sequence conflict

1576 – 1577

2

LA → RQ in CAA27381. Ref.14

Sequence conflict

1681

1

Missing in CAA37068. Ref.2

Sequence conflict

1703 – 1704

2

EQ → DE in CAA35940. Ref.13

Sequence conflict

1703 – 1704

2

EQ → DR in CAA37068. Ref.2

Sequence conflict

1703 – 1704

2

EQ → DR in AAA36343. Ref.16

Sequence conflict

1866

1

D → A in CAA29119. Ref.18

Secondary structure

1

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1935

Helix Strand Turn

Details...

Helix

4 – 15

12

Helix

20 – 28

9

Turn

33 – 35

3

Beta strand

36 – 40

5

Beta strand

42 – 54

13

Beta strand

56 – 63

8

Turn

64 – 66

3

Beta strand

67 – 72

6

Helix

73 – 75

3

Helix

82 – 84

3

Helix

90 – 92

3

Helix

98 – 110

13

Beta strand

115 – 118

4

Beta strand

121 – 125

5

Helix

136 – 142

7

Helix

147 – 149

3

Helix

154 – 168

15

Beta strand

172 – 177

6

Helix

184 – 198

15

Helix

216 – 231

16

Beta strand

244 – 252

9

Beta strand

256 – 266

11

Helix

270 – 273

4

Helix

284 – 290

7

Helix

295 – 300

6

Helix

307 – 309

3

Helix

311 – 313

3

Helix

325 – 338

14

Helix

343 – 359

17

Beta strand

364 – 366

3

Beta strand

373 – 376

4

Helix

379 – 387

9

Helix

392 – 400

9

Helix

417 – 447

31

Beta strand

454 – 461

8

Helix

473 – 504

32

Helix

513 – 517

5

Helix

518 – 525

8

Helix

530 – 534

5

Helix

545 – 556

12

Turn

557 – 559

3

Beta strand

577 – 581

5

Beta strand

584 – 588

5

Helix

593 – 598

6

Helix

603 – 610

8

Helix

615 – 622

8

Helix

647 – 663

17

Beta strand

665 – 673

9

Helix

686 – 695

10

Helix

698 – 706

9

Beta strand

711 – 714

4

Helix

744 – 747

4

Beta strand

748 – 751

4

Helix

753 – 755

3

Beta strand

756 – 758

3

Beta strand

760 – 765

6

Helix

769 – 776

8

Helix

838 – 958

121

Turn

959 – 961

3

Sequences

	Sequence		Length	Mass (Da)
	P12883 [UniParc]. Last modified December 6, 2005. Version 5. Checksum: C58B22F914215718	FASTA	1,935	223,097
	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

References

	« Hide 'large scale' referencesShow '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. , 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.

Web resources

GeneReviews

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 , 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.

IPI

IPI00025880.

PIR

A37102.

RefSeq

NP_000248.2. NM_000257.2.

UniGene

Hs.719946.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1IK2	model	-	A	1-841	[»]
2FXM	X-ray	2.70	A/B	838-963	[»]
2FXO	X-ray	2.50	A/B/C/D	838-963	[»]
3DTP	electron microscopy	20.00	A	842-961	[»]
			B	842-963	[»]
4DB1	X-ray	2.60	A/B	2-783	[»]

ProteinModelPortal

P12883.

ModBase

Search...

Protein-protein interaction databases

IntAct

P12883. 6 interactions.

MINT

MINT-1512407.

PTM databases

PhosphoSite

P12883.

Polymorphism databases

DMDM

83304912.

2D gel databases

UCD-2DPAGE

P12883.
Q92679.

Proteomic databases

PaxDb

P12883.

PRIDE

P12883.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000355349; ENSP00000347507; ENSG00000092054.

GeneID

4625.

KEGG

hsa:4625.

UCSC

uc001wjx.3. human.

Organism-specific databases

CTD

4625.

GeneCards

GC14M023881.

H-InvDB

HIX0172409.

HGNC

HGNC:7577. MYH7.

HPA

CAB015384.
HPA001239.
HPA001349.

MIM

160500. phenotype.
160760. gene.
181430. phenotype.
192600. phenotype.
608358. phenotype.
613426. phenotype.

neXtProt

NX_P12883.

Orphanet

324604. Classic multiminicore myopathy.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
53698. Hyaline body myopathy.
59135. Laing distal myopathy.
54260. Left ventricular noncompaction.
85146. Scapuloperoneal amyotrophy.

PharmGKB

PA31374.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG5022.

HOVERGEN

HBG004704.

KO

K10352.

OrthoDB

EOG42JNQH.

Gene expression databases

ArrayExpress

P12883.

Bgee

P12883.

Genevestigator

P12883.

GermOnline

ENSG00000092054. Homo sapiens.

Family and domain databases

Gene3D

4.10.270.10. 1 hit.

InterPro

IPR000048. 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]

Pfam

PF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]

PRINTS

PR00193. MYOSINHEAVY.

SMART

SM00015. IQ. 1 hit.
SM00242. MYSc. 1 hit.
[Graphical view]

SUPFAM

SSF52540. SSF52540. 1 hit.

PROSITE

PS50096. IQ. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

MYH7. human.

EvolutionaryTrace

P12883.

GenomeRNAi

4625.

NextBio

17802.

SOURCE

Search...

Entry information

Entry name

MYH7_HUMAN

Accession

Primary (citable) accession number: P12883
Secondary accession number(s): A2TDB6 , 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:	May 29, 2013
This is version 166 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.