SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q14896

- MYPC3_HUMAN

UniProt

Q14896 - MYPC3_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Myosin-binding protein C, cardiac-type
Gene
MYBPC3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi208 – 2081Zinc
Metal bindingi210 – 2101Zinc
Metal bindingi223 – 2231Zinc
Metal bindingi225 – 2251Zinc

GO - Molecular functioni

  1. ATPase activator activity Source: BHF-UCL
  2. identical protein binding Source: IntAct
  3. metal ion binding Source: UniProtKB-KW
  4. myosin binding Source: BHF-UCL
  5. myosin heavy chain binding Source: BHF-UCL
  6. structural constituent of muscle Source: BHF-UCL
  7. titin binding Source: BHF-UCL

GO - Biological processi

  1. cardiac muscle contraction Source: BHF-UCL
  2. cell adhesion Source: UniProtKB-KW
  3. heart morphogenesis Source: BHF-UCL
  4. muscle filament sliding Source: Reactome
  5. myosin filament assembly Source: Ensembl
  6. positive regulation of ATPase activity Source: BHF-UCL
  7. regulation of heart rate Source: Ensembl
  8. regulation of muscle filament sliding Source: BHF-UCL
  9. regulation of striated muscle contraction Source: BHF-UCL
  10. sarcomere organization Source: Ensembl
  11. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Actin-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-binding protein C, cardiac-type
Short name:
Cardiac MyBP-C
Alternative name(s):
C-protein, cardiac muscle isoform
Gene namesi
Name:MYBPC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:7551. MYBPC3.

Subcellular locationi

GO - Cellular componenti

  1. A band Source: BHF-UCL
  2. C zone Source: BHF-UCL
  3. cytosol Source: Reactome
  4. sarcomere Source: BHF-UCL
  5. striated muscle myosin thick filament Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Thick filament

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: 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.22 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51G → R in CMH4. 1 Publication
VAR_029390
Natural varianti59 – 591T → A in CMH4. 1 Publication
VAR_029391
Natural varianti161 – 1611P → S in CMH4. 1 Publication
VAR_029392
Natural varianti219 – 2191V → L in CMH4. 1 Publication
VAR_029393
Natural varianti228 – 2281D → N in CMH4. 1 Publication
VAR_029394
Natural varianti237 – 2371Y → S in CMH4. 1 Publication
VAR_029395
Natural varianti256 – 2561V → I in CMH4. 1 Publication
VAR_029396
Natural varianti257 – 2571H → P in CMH4. 1 Publication
VAR_019889
Natural varianti258 – 2581E → K in CMH4. 8 Publications
VAR_019890
Natural varianti263 – 2631G → R in CMH4. 1 Publication
VAR_042740
Natural varianti272 – 2721R → C in CMH4. 1 Publication
VAR_070449
Natural varianti273 – 2731R → H in CMH4. 1 Publication
VAR_042741
Natural varianti278 – 2781G → E in CMH4. 2 Publications
Corresponds to variant rs147315081 [ dbSNP | Ensembl ].
VAR_019891
Natural varianti279 – 2791G → A in CMH4. 1 Publication
VAR_019892
Natural varianti282 – 2821R → W in CMH4. 2 Publications
VAR_029397
Natural varianti336 – 3361I → V in CMH4. 1 Publication
VAR_070450
Natural varianti352 – 3521L → P in CMH4. 1 Publication
VAR_019894
Natural varianti417 – 4171A → S in CMH4. 1 Publication
VAR_042742
Natural varianti451 – 4511E → Q in CMH4. 1 Publication
VAR_027879
Natural varianti458 – 4581R → H in CMH4. 1 Publication
VAR_029399
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti490 – 4901G → V in CMH4. 1 Publication
VAR_070451
Natural varianti495 – 4951R → G in CMH4. 1 Publication
VAR_045929
Natural varianti495 – 4951R → Q in CMH4. 4 Publications
VAR_027880
Natural varianti502 – 5021R → Q in CMH4. 3 Publications
VAR_027881
Natural varianti502 – 5021R → W in CMH4. 4 Publications
VAR_019895
Natural varianti504 – 5041Missing in CMH4. 1 Publication
VAR_019896
Natural varianti507 – 5071G → R in CMH4. 3 Publications
Corresponds to variant rs35736435 [ dbSNP | Ensembl ].
VAR_029401
Natural varianti523 – 5231G → W in CMH4. 1 Publication
VAR_029402
Natural varianti542 – 5421E → Q in CMH4. 4 Publications
VAR_003917
Natural varianti566 – 5661C → R in CMH4. 2 Publications
VAR_029404
Natural varianti604 – 6041D → V in CMH4. 1 Publication
VAR_029405
Natural varianti605 – 6051D → N in CMH4; unknown pathological significance. 3 Publications
VAR_029406
Natural varianti608 – 6081P → L in CMH4. 1 Publication
VAR_029407
Natural varianti654 – 6541R → H in CMH4; as well folded and stable as the wild-type. 2 Publications
Corresponds to variant rs1800565 [ dbSNP | Ensembl ].
VAR_003918
Natural varianti668 – 6681R → H in CMH4. 1 Publication
VAR_029408
Natural varianti668 – 6681R → P in CMH4. 1 Publication
VAR_029409
Natural varianti669 – 6691L → H in CMH4. 1 Publication
VAR_042743
Natural varianti733 – 7331R → C in CMH4. 1 Publication
VAR_029410
Natural varianti755 – 7551N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 2 Publications
VAR_003919
Natural varianti759 – 7591E → D in CMH4. 1 Publication
VAR_042744
Natural varianti770 – 7701D → N in CMH4. 1 Publication
Corresponds to variant rs36211723 [ dbSNP | Ensembl ].
VAR_029411
Natural varianti792 – 7921W → R in CMH4. 1 Publication
VAR_029412
Natural varianti810 – 8101R → H in CMH4. 2 Publications
VAR_029413
Natural varianti811 – 8111K → R in CMH4. 1 Publication
VAR_019897
Natural varianti811 – 8111Missing in CMH4. 1 Publication
VAR_029414
Natural varianti813 – 8131Missing in CMH4. 1 Publication
VAR_029415
Natural varianti820 – 8201R → Q in CMH4. 4 Publications
Corresponds to variant rs2856655 [ dbSNP | Ensembl ].
VAR_029416
Natural varianti833 – 8331A → T in CMH4 and CMD1MM. 5 Publications
VAR_029417
Natural varianti833 – 8331A → V in CMH4. 3 Publications
Corresponds to variant rs3729952 [ dbSNP | Ensembl ].
VAR_019898
Natural varianti834 – 8341R → T in CMH4.
VAR_029418
Natural varianti834 – 8341R → W in CMH4; pathogenicity is uncertain. 1 Publication
VAR_029419
Natural varianti873 – 8731P → H in CMH4. 1 Publication
VAR_029420
Natural varianti948 – 9481N → T in CMH4. 1 Publication
VAR_029421
Natural varianti957 – 9571T → S in CMH4. 1 Publication
VAR_070453
Natural varianti958 – 9581T → I in CMH4. 1 Publication
VAR_070454
Natural varianti998 – 9981Q → E in CMH4; dbNP:11570112. 2 Publications
Corresponds to variant rs11570112 [ dbSNP | Ensembl ].
VAR_020574
Natural varianti998 – 9981Q → R in CMH4. 1 Publication
VAR_029422
Natural varianti1002 – 10021R → Q in CMH4. 1 Publication
VAR_029423
Natural varianti1003 – 10031P → Q in CMH4.
VAR_029425
Natural varianti1028 – 10281T → S in CMH4. 1 Publication
VAR_045930
Natural varianti1113 – 11131F → I in CMH4. 1 Publication
VAR_029426
Natural varianti1115 – 11151V → I in CMH4. 2 Publications
VAR_029427
Natural varianti1131 – 11311I → T in CMH4; unknown pathological significance. 2 Publications
VAR_029428
Natural varianti1155 – 11551Missing in CMH4.
VAR_029429
Natural varianti1194 – 11941A → T in CMH4. 1 Publication
VAR_019900
Natural varianti1248 – 12481G → R in CMH4. 1 Publication
VAR_045931
Natural varianti1255 – 12551A → T in CMH4. 1 Publication
VAR_019901
Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]: 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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti833 – 8331A → T in CMH4 and CMD1MM. 5 Publications
VAR_029417
Natural varianti1264 – 12641C → F in CMD1MM. 1 Publication
VAR_070455
Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti873 – 8731P → L in LVNC10. 1 Publication
VAR_070452

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi115197. phenotype.
615396. phenotype.
Orphaneti154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBiPA31351.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12741274Myosin-binding protein C, cardiac-type
PRO_0000072693Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine By similarity
Modified residuei275 – 2751Phosphoserine; by PKA and PKC By similarity
Modified residuei284 – 2841Phosphoserine; by PKA and PKC By similarity
Modified residuei304 – 3041Phosphoserine; by PKA and PKC By similarity
Disulfide bondi436 ↔ 443 Reviewed prediction

Post-translational modificationi

Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction By similarity.

Keywords - PTMi

Acetylation, Disulfide bond, Phosphoprotein

Proteomic databases

PaxDbiQ14896.
PRIDEiQ14896.

2D gel databases

UCD-2DPAGEQ14896.

PTM databases

PhosphoSiteiQ14896.

Expressioni

Gene expression databases

ArrayExpressiQ14896.
BgeeiQ14896.
CleanExiHS_MYBPC3.
GenevestigatoriQ14896.

Organism-specific databases

HPAiHPA040147.
HPA043898.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-704176,EBI-704176

Protein-protein interaction databases

BioGridi110692. 9 interactions.
IntActiQ14896. 3 interactions.
MINTiMINT-6174801.
STRINGi9606.ENSP00000382193.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi19 – 224
Beta strandi27 – 326
Beta strandi34 – 374
Beta strandi41 – 433
Beta strandi45 – 495
Beta strandi56 – 605
Beta strandi63 – 708
Beta strandi77 – 837
Beta strandi86 – 9510
Beta strandi156 – 1594
Beta strandi164 – 1674
Beta strandi172 – 1798
Beta strandi184 – 1863
Beta strandi188 – 1936
Turni194 – 1963
Helixi199 – 2024
Beta strandi207 – 2148
Turni215 – 2184
Beta strandi219 – 2268
Helixi231 – 2333
Beta strandi235 – 2428
Beta strandi247 – 25711
Beta strandi650 – 6523
Beta strandi658 – 6658
Beta strandi670 – 6723
Beta strandi675 – 6773
Beta strandi680 – 6867
Beta strandi722 – 7243
Beta strandi726 – 7305
Beta strandi733 – 7375
Turni743 – 7453
Beta strandi747 – 7548
Beta strandi759 – 76810

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1GXENMR-A641-770[»]
1PD6NMR-A358-451[»]
2AVGNMR-A151-260[»]
2K1MNMR-A2-96[»]
2V6HX-ray1.55A151-258[»]
3CX2X-ray1.30A151-258[»]
ProteinModelPortaliQ14896.
SMRiQ14896. Positions 2-96, 151-258, 319-353, 358-1168, 1181-1271.

Miscellaneous databases

EvolutionaryTraceiQ14896.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini153 – 256104Ig-like C2-type 1
Add
BLAST
Domaini362 – 45291Ig-like C2-type 2
Add
BLAST
Domaini453 – 54391Ig-like C2-type 3
Add
BLAST
Domaini544 – 63390Ig-like C2-type 4
Add
BLAST
Domaini645 – 771127Ig-like C2-type 5
Add
BLAST
Domaini774 – 87097Fibronectin type-III 1
Add
BLAST
Domaini872 – 96796Fibronectin type-III 2
Add
BLAST
Domaini971 – 106595Ig-like C2-type 6
Add
BLAST
Domaini1068 – 116396Fibronectin type-III 3
Add
BLAST
Domaini1181 – 127494Ig-like C2-type 7
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi102 – 15251Pro-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiNOG12793.
HOGENOMiHOG000220906.
HOVERGENiHBG052560.
KOiK12568.
OMAiEIQMSGS.
OrthoDBiEOG7WX07H.
TreeFamiTF351819.

Family and domain databases

Gene3Di2.60.40.10. 11 hits.
InterProiIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF00041. fn3. 3 hits.
PF07679. I-set. 8 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14896-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS     50
ASNKYGLATE GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA 100
EPMLAPAPAP AEATGAPGEA PAPAAELGES APSPKGSSSA ALNGPTPGAP 150
DDPIGLFVMR PQDGEVTVGG SITFSARVAG ASLLKPPVVK WFKGKWVDLS 200
SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE VSTKDKFDCS 250
NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK 300
KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK 350
RLKGMRRDEK KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG 400
QEIQMSGSKY IFESIGAKRT LTISQCSLAD DAAYQCVVGG EKCSTELFVK 450
EPPVLITRPL EDQLVMVGQR VEFECEVSEE GAQVKWLKDG VELTREETFK 500
YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV QEKKLEVYQS 550
IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK 600
LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD 650
CPGRIPDTIV VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD 700
APEDTGDSDE WVFDKKLLCE TEGRVRVETT KDRSIFTVEG AEKEDEGVYT 750
VTVKNPVGED QVNLTVKVID VPDAPAAPKI SNVGEDSCTV QWEPPAYDGG 800
QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV VYEMRVYAVN 850
AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG 900
LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA 950
GPGAPVTTTE PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK 1000
PRPQVTWTKE GQPLAGEEVS IRNSPTDTIL FIRAARRVHS GTYQVTVRIE 1050
NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL NVALEWKPPQ DVGNTELWGY 1100
TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF SQNMVGFSDR 1150
AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML 1200
CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI 1250
YVCRATNLQG EARCECRLEV RVPQ 1274
Length:1,274
Mass (Da):140,762
Last modified:November 28, 2012 - v4
Checksum:i4E5385C40085B796
GO
Isoform 2 (identifier: Q14896-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-409: SK → R

Show »
Length:1,273
Mass (Da):140,703
Checksum:iA23FC20A513F4920
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51G → R in CMH4. 1 Publication
VAR_029390
Natural varianti59 – 591T → A in CMH4. 1 Publication
VAR_029391
Natural varianti158 – 1581V → M.3 Publications
Corresponds to variant rs3729986 [ dbSNP | Ensembl ].
VAR_020085
Natural varianti161 – 1611P → S in CMH4. 1 Publication
VAR_029392
Natural varianti189 – 1891V → I.1 Publication
Corresponds to variant rs11570052 [ dbSNP | Ensembl ].
VAR_020568
Natural varianti219 – 2191V → L in CMH4. 1 Publication
VAR_029393
Natural varianti228 – 2281D → N in CMH4. 1 Publication
VAR_029394
Natural varianti236 – 2361S → G.6 Publications
Corresponds to variant rs3729989 [ dbSNP | Ensembl ].
VAR_020086
Natural varianti237 – 2371Y → S in CMH4. 1 Publication
VAR_029395
Natural varianti256 – 2561V → I in CMH4. 1 Publication
VAR_029396
Natural varianti257 – 2571H → P in CMH4. 1 Publication
VAR_019889
Natural varianti258 – 2581E → K in CMH4. 8 Publications
VAR_019890
Natural varianti263 – 2631G → R in CMH4. 1 Publication
VAR_042740
Natural varianti272 – 2721R → C in CMH4. 1 Publication
VAR_070449
Natural varianti273 – 2731R → H in CMH4. 1 Publication
VAR_042741
Natural varianti278 – 2781G → E in CMH4. 2 Publications
Corresponds to variant rs147315081 [ dbSNP | Ensembl ].
VAR_019891
Natural varianti279 – 2791G → A in CMH4. 1 Publication
VAR_019892
Natural varianti281 – 2811R → Q.1 Publication
Corresponds to variant rs11570060 [ dbSNP | Ensembl ].
VAR_020569
Natural varianti282 – 2821R → W in CMH4. 2 Publications
VAR_029397
Natural varianti326 – 3261R → Q.9 Publications
Corresponds to variant rs34580776 [ dbSNP | Ensembl ].
VAR_019893
Natural varianti336 – 3361I → V in CMH4. 1 Publication
VAR_070450
Natural varianti352 – 3521L → P in CMH4. 1 Publication
VAR_019894
Natural varianti382 – 3821R → W.2 Publications
Corresponds to variant rs11570076 [ dbSNP | Ensembl ].
VAR_020570
Natural varianti383 – 3831L → V.1 Publication
Corresponds to variant rs11570077 [ dbSNP | Ensembl ].
VAR_020571
Natural varianti416 – 4161G → S.1 Publication
VAR_029398
Natural varianti417 – 4171A → S in CMH4. 1 Publication
VAR_042742
Natural varianti451 – 4511E → Q in CMH4. 1 Publication
VAR_027879
Natural varianti458 – 4581R → H in CMH4. 1 Publication
VAR_029399
Natural varianti490 – 4901G → R in CMH4, CMD1MM and LVNC10. 4 Publications
VAR_029400
Natural varianti490 – 4901G → V in CMH4. 1 Publication
VAR_070451
Natural varianti495 – 4951R → G in CMH4. 1 Publication
VAR_045929
Natural varianti495 – 4951R → Q in CMH4. 4 Publications
VAR_027880
Natural varianti502 – 5021R → Q in CMH4. 3 Publications
VAR_027881
Natural varianti502 – 5021R → W in CMH4. 4 Publications
VAR_019895
Natural varianti504 – 5041Missing in CMH4. 1 Publication
VAR_019896
Natural varianti507 – 5071G → R in CMH4. 3 Publications
Corresponds to variant rs35736435 [ dbSNP | Ensembl ].
VAR_029401
Natural varianti522 – 5221A → T.1 Publication
Corresponds to variant rs11570082 [ dbSNP | Ensembl ].
VAR_020573
Natural varianti523 – 5231G → W in CMH4. 1 Publication
VAR_029402
Natural varianti542 – 5421E → Q in CMH4. 4 Publications
VAR_003917
Natural varianti545 – 5451L → M.1 Publication
VAR_029403
Natural varianti566 – 5661C → R in CMH4. 2 Publications
VAR_029404
Natural varianti604 – 6041D → V in CMH4. 1 Publication
VAR_029405
Natural varianti605 – 6051D → N in CMH4; unknown pathological significance. 3 Publications
VAR_029406
Natural varianti608 – 6081P → L in CMH4. 1 Publication
VAR_029407
Natural varianti654 – 6541R → H in CMH4; as well folded and stable as the wild-type. 2 Publications
Corresponds to variant rs1800565 [ dbSNP | Ensembl ].
VAR_003918
Natural varianti668 – 6681R → H in CMH4. 1 Publication
VAR_029408
Natural varianti668 – 6681R → P in CMH4. 1 Publication
VAR_029409
Natural varianti669 – 6691L → H in CMH4. 1 Publication
VAR_042743
Natural varianti733 – 7331R → C in CMH4. 1 Publication
VAR_029410
Natural varianti755 – 7551N → K in CMH4; destabilizes the structure of Ig-like C2-type domain 5. 2 Publications
VAR_003919
Natural varianti759 – 7591E → D in CMH4. 1 Publication
VAR_042744
Natural varianti770 – 7701D → N in CMH4. 1 Publication
Corresponds to variant rs36211723 [ dbSNP | Ensembl ].
VAR_029411
Natural varianti792 – 7921W → R in CMH4. 1 Publication
VAR_029412
Natural varianti810 – 8101R → H in CMH4. 2 Publications
VAR_029413
Natural varianti811 – 8111K → R in CMH4. 1 Publication
VAR_019897
Natural varianti811 – 8111Missing in CMH4. 1 Publication
VAR_029414
Natural varianti813 – 8131Missing in CMH4. 1 Publication
VAR_029415
Natural varianti820 – 8201R → Q in CMH4. 4 Publications
Corresponds to variant rs2856655 [ dbSNP | Ensembl ].
VAR_029416
Natural varianti833 – 8331A → T in CMH4 and CMD1MM. 5 Publications
VAR_029417
Natural varianti833 – 8331A → V in CMH4. 3 Publications
Corresponds to variant rs3729952 [ dbSNP | Ensembl ].
VAR_019898
Natural varianti834 – 8341R → T in CMH4.
VAR_029418
Natural varianti834 – 8341R → W in CMH4; pathogenicity is uncertain. 1 Publication
VAR_029419
Natural varianti873 – 8731P → H in CMH4. 1 Publication
VAR_029420
Natural varianti873 – 8731P → L in LVNC10. 1 Publication
VAR_070452
Natural varianti896 – 8961V → M May act as a phenotype modifier in cardiomyopathy patients. 5 Publications
Corresponds to variant rs35078470 [ dbSNP | Ensembl ].
VAR_019899
Natural varianti948 – 9481N → T in CMH4. 1 Publication
VAR_029421
Natural varianti957 – 9571T → S in CMH4. 1 Publication
VAR_070453
Natural varianti958 – 9581T → I in CMH4. 1 Publication
VAR_070454
Natural varianti998 – 9981Q → E in CMH4; dbNP:11570112. 2 Publications
Corresponds to variant rs11570112 [ dbSNP | Ensembl ].
VAR_020574
Natural varianti998 – 9981Q → R in CMH4. 1 Publication
VAR_029422
Natural varianti1002 – 10021R → Q in CMH4. 1 Publication
VAR_029423
Natural varianti1002 – 10021R → W.1 Publication
Corresponds to variant rs3729799 [ dbSNP | Ensembl ].
VAR_029424
Natural varianti1003 – 10031P → Q in CMH4.
VAR_029425
Natural varianti1028 – 10281T → S in CMH4. 1 Publication
VAR_045930
Natural varianti1048 – 10481R → C.1 Publication
Corresponds to variant rs11570113 [ dbSNP | Ensembl ].
VAR_020575
Natural varianti1113 – 11131F → I in CMH4. 1 Publication
VAR_029426
Natural varianti1115 – 11151V → I in CMH4. 2 Publications
VAR_029427
Natural varianti1131 – 11311I → T in CMH4; unknown pathological significance. 2 Publications
VAR_029428
Natural varianti1155 – 11551Missing in CMH4.
VAR_029429
Natural varianti1194 – 11941A → T in CMH4. 1 Publication
VAR_019900
Natural varianti1248 – 12481G → R in CMH4. 1 Publication
VAR_045931
Natural varianti1255 – 12551A → T in CMH4. 1 Publication
VAR_019901
Natural varianti1264 – 12641C → F in CMD1MM. 1 Publication
VAR_070455

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei408 – 4092SK → R in isoform 2.
VSP_047141

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti248 – 2481D → E1 Publication
Sequence conflicti248 – 2481D → E1 Publication
Sequence conflicti302 – 3032RD → SS in AAR89909. 1 Publication
Sequence conflicti536 – 5361A → R in CAA58882. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X84075 mRNA. Translation: CAA58882.1.
Y10129 Genomic DNA. Translation: CAA71216.1.
U91629 Genomic DNA. Translation: AAC04620.1.
AY518390 Genomic DNA. Translation: AAR89909.1.
GU324918 Genomic DNA. Translation: ADL14489.1.
AC090582 Genomic DNA. No translation available.
BC136543 mRNA. Translation: AAI36544.1.
BC136546 mRNA. Translation: AAI36547.1.
BC142685 mRNA. Translation: AAI42686.1.
BC151211 mRNA. Translation: AAI51212.1.
S80778 mRNA. Translation: AAB35662.1.
CCDSiCCDS53621.1. [Q14896-1]
PIRiS55050.
RefSeqiNP_000247.2. NM_000256.3. [Q14896-1]
UniGeneiHs.524906.

Genome annotation databases

EnsembliENST00000256993; ENSP00000256993; ENSG00000134571.
ENST00000545968; ENSP00000442795; ENSG00000134571. [Q14896-1]
GeneIDi4607.
KEGGihsa:4607.
UCSCiuc021qir.1. human. [Q14896-1]

Polymorphism databases

DMDMi425906074.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X84075 mRNA. Translation: CAA58882.1 .
Y10129 Genomic DNA. Translation: CAA71216.1 .
U91629 Genomic DNA. Translation: AAC04620.1 .
AY518390 Genomic DNA. Translation: AAR89909.1 .
GU324918 Genomic DNA. Translation: ADL14489.1 .
AC090582 Genomic DNA. No translation available.
BC136543 mRNA. Translation: AAI36544.1 .
BC136546 mRNA. Translation: AAI36547.1 .
BC142685 mRNA. Translation: AAI42686.1 .
BC151211 mRNA. Translation: AAI51212.1 .
S80778 mRNA. Translation: AAB35662.1 .
CCDSi CCDS53621.1. [Q14896-1 ]
PIRi S55050.
RefSeqi NP_000247.2. NM_000256.3. [Q14896-1 ]
UniGenei Hs.524906.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1GXE NMR - A 641-770 [» ]
1PD6 NMR - A 358-451 [» ]
2AVG NMR - A 151-260 [» ]
2K1M NMR - A 2-96 [» ]
2V6H X-ray 1.55 A 151-258 [» ]
3CX2 X-ray 1.30 A 151-258 [» ]
ProteinModelPortali Q14896.
SMRi Q14896. Positions 2-96, 151-258, 319-353, 358-1168, 1181-1271.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110692. 9 interactions.
IntActi Q14896. 3 interactions.
MINTi MINT-6174801.
STRINGi 9606.ENSP00000382193.

PTM databases

PhosphoSitei Q14896.

Polymorphism databases

DMDMi 425906074.

2D gel databases

UCD-2DPAGE Q14896.

Proteomic databases

PaxDbi Q14896.
PRIDEi Q14896.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000256993 ; ENSP00000256993 ; ENSG00000134571 .
ENST00000545968 ; ENSP00000442795 ; ENSG00000134571 . [Q14896-1 ]
GeneIDi 4607.
KEGGi hsa:4607.
UCSCi uc021qir.1. human. [Q14896-1 ]

Organism-specific databases

CTDi 4607.
GeneCardsi GC11M048799.
GeneReviewsi MYBPC3.
HGNCi HGNC:7551. MYBPC3.
HPAi HPA040147.
HPA043898.
MIMi 115197. phenotype.
600958. gene.
615396. phenotype.
neXtProti NX_Q14896.
Orphaneti 154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
54260. Left ventricular noncompaction.
PharmGKBi PA31351.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
HOGENOMi HOG000220906.
HOVERGENi HBG052560.
KOi K12568.
OMAi EIQMSGS.
OrthoDBi EOG7WX07H.
TreeFami TF351819.

Enzyme and pathway databases

Reactomei REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi MYBPC3. human.
EvolutionaryTracei Q14896.
GeneWikii Myosin_binding_protein_C,_cardiac.
GenomeRNAii 4607.
NextBioi 17732.
PROi Q14896.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14896.
Bgeei Q14896.
CleanExi HS_MYBPC3.
Genevestigatori Q14896.

Family and domain databases

Gene3Di 2.60.40.10. 11 hits.
InterProi IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view ]
Pfami PF00041. fn3. 3 hits.
PF07679. I-set. 8 hits.
[Graphical view ]
SMARTi SM00060. FN3. 3 hits.
SM00409. IG. 7 hits.
SM00408. IGc2. 1 hit.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 3 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?"
    Gautel M., Zuffardi O., Freiburg A., Labeit S.
    EMBO J. 14:1952-1960(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMH4 GLN-820.
    Tissue: Heart.
  2. "Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy."
    Carrier L., Bonne G., Bahrend E., Yu B., Richard P., Niel F., Hainque B., Cruaud C., Gary F., Labeit S., Bouhour J.-B., Dubourg O., Desnos M., Hagege A.A., Trent R.J., Komajda M., Fiszman M., Schwartz K.
    Circ. Res. 80:427-434(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-542 AND GLN-820.
  3. "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy."
    Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., Kristinsson A., Roberts R., Sole M., Maron B.J., Seidman J.G., Seidman C.E.
    N. Engl. J. Med. 338:1248-1257(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS CMH4 GLN-451; GLN-495 AND GLN-502.
  4. NIEHS SNPs program
    Submitted (JAN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS MET-158; ILE-189; GLY-236; GLN-281; TRP-382; VAL-383; THR-522; VAL-833; GLU-998 AND CYS-1048.
  5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. 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. "Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy."
    Bonne G., Carrier L., Bercovici J., Cruaud C., Richard P., Hainque B., Gautel M., Labeit S., James M., Beckmann J., Weissenbach J., Vosberg H.-P., Fiszman M., Komajda M., Schwartz K.
    Nat. Genet. 11:438-440(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 640-694.
  9. "Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy."
    Idowu S.M., Gautel M., Perkins S.J., Pfuhl M.
    J. Mol. Biol. 329:745-761(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 641-770, CHARACTERIZATION OF VARIANTS HIS-654 AND LYS-755.
  10. "Sequence specific assignment of domain C1 of the N-terminal myosin-binding site of human cardiac myosin binding protein C (MyBP-C)."
    Ababou A., Zhou L., Gautel M., Pfuhl M.
    J. Biomol. NMR 29:431-432(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 358-450, DISULFIDE BOND.
  11. "An investigation into the protonation states of the C1 domain of cardiac myosin-binding protein C."
    Fisher S.J., Helliwell J.R., Khurshid S., Govada L., Redwood C., Squire J.M., Chayen N.E.
    Acta Crystallogr. D 64:658-664(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.3 ANGSTROMS) OF 151-258.
  12. "Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy."
    Govada L., Carpenter L., da Fonseca P.C., Helliwell J.R., Rizkallah P., Flashman E., Chayen N.E., Redwood C., Squire J.M.
    J. Mol. Biol. 378:387-397(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 151-258.
  13. "Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1."
    Ababou A., Rostkova E., Mistry S., Le Masurier C., Gautel M., Pfuhl M.
    J. Mol. Biol. 384:615-630(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 151-260, ZINC-BINDING SITE.
  14. "Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene."
    Yu B., French J.A., Carrier L., Jeremy R.W., McTaggart D.R., Nicholson M.R., Hambly B., Semsarian C., Richmond D.R., Schwartz K., Trent R.J.
    J. Med. Genet. 35:205-210(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH4 LYS-755.
  15. "Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy."
    Moolman-Smook J.C., Mayosi B., Brink P., Corfield V.A.
    J. Med. Genet. 35:253-254(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH4 HIS-654.
  16. "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: VARIANT MET-896.
  17. "Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations."
    Maron B.J., Niimura H., Casey S.A., Soper M.K., Wright G.B., Seidman J.G., Seidman C.E.
    J. Am. Coll. Cardiol. 38:315-321(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH4 GLN-495, VARIANT GLN-326.
  18. "Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy."
    Erdmann J., Raible J., Maki-Abadi J., Hummel M., Hammann J., Wollnik B., Frantz E., Fleck E., Hetzer R., Regitz-Zagrosek V.
    J. Am. Coll. Cardiol. 38:322-330(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH4 TRP-282; ARG-507; ARG-566 AND ILE-1115.
  19. Cited for: VARIANT CMH4 THR-948, VARIANTS GLY-236 AND GLN-326.
  20. "Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
    Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E.
    Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH4 ALA-59 AND GLN-1002, VARIANT GLN-326.
  21. "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 CMH4 LYS-258; HIS-810; GLN-820 AND HIS-873.
  22. "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 CMH4 PRO-257; LYS-258; GLU-278; ALA-279; PRO-352; TRP-502; LYS-504 DEL; GLN-542; ARG-811; VAL-833; THR-1194 AND THR-1255, VARIANTS GLN-326 AND MET-896.
  23. "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 CMH4 LYS-258; TRP-282; ARG-507; TRP-523; ARG-566; PRO-668; VAL-833 AND ILE-1115, VARIANTS GLY-236 AND GLN-326.
  24. "The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands."
    Alders M., Jongbloed R., Deelen W., van den Wijngaard A., Doevendans P., Ten Cate F., Regitz-Zagrosek V., Vosberg H.-P., van Langen I., Wilde A., Dooijes D., Mannens M.
    Eur. Heart J. 24:1848-1853(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH4 SER-161; LYS-258; ASN-605; THR-833; TRP-834 AND THR-1131.
  25. "A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients."
    Konno T., Shimizu M., Ino H., Matsuyama T., Yamaguchi M., Terai H., Hayashi K., Mabuchi T., Kiyama M., Sakata K., Hayashi T., Inoue M., Kaneda T., Mabuchi H.
    J. Am. Coll. Cardiol. 41:781-786(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH4 GLN-820.
  26. "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 CMH4 SER-237; HIS-668 AND THR-833, VARIANTS GLN-326 AND MET-896.
  27. "Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency."
    Andersen P.S., Havndrup O., Bundgaard H., Larsen L.A., Vuust J., Pedersen A.K., Kjeldsen K., Christiansen M.
    Eur. J. Hum. Genet. 12:673-677(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH4 ASN-228; LYS-258; LYS-813 DEL AND THR-833.
  28. "Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy."
    Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.J., Ackerman M.J.
    J. Am. Coll. Cardiol. 44:1903-1910(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH4 ARG-5; LEU-219; ILE-256; LYS-258; HIS-458; ARG-490; GLN-495; TRP-502; GLN-542; VAL-604; ASN-605; LEU-608; CYS-733; ASN-770; ARG-792; HIS-810; LYS-811 DEL; THR-833; GLU-998; ARG-998; ILE-1113 AND THR-1131, VARIANTS MET-158; GLY-236; GLN-326; TRP-382; SER-416; ARG-507; MET-545 AND MET-896.
  29. Cited for: VARIANT GLY-236.
  30. "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 CMH4 LYS-258; ARG-263; SER-417; HIS-669 AND ASP-759.
  31. "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 CMH4 HIS-273; TRP-502 AND GLN-542, VARIANT GLN-326.
  32. "Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene."
    Ehlermann P., Weichenhan D., Zehelein J., Steen H., Pribe R., Zeller R., Lehrke S., Zugck C., Ivandic B.T., Katus H.A.
    BMC Med. Genet. 9:95-95(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMH4 LYS-258; CYS-272; VAL-336; GLN-495; GLN-502; SER-957 AND ILE-958.
  33. Cited for: VARIANTS CMH4 GLU-278; ARG-490; GLY-495; GLN-502; TRP-502; ASN-605; SER-1028 AND ARG-1248, VARIANTS MET-158; GLY-236; GLN-326; MET-896 AND TRP-1002.
  34. "Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy."
    Hershberger R.E., Norton N., Morales A., Li D., Siegfried J.D., Gonzalez-Quintana J.
    Circ. Cardiovasc. Genet. 3:155-161(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMD1MM ARG-490; THR-833 AND PHE-1264.
  35. "Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype."
    Probst S., Oechslin E., Schuler P., Greutmann M., Boye P., Knirsch W., Berger F., Thierfelder L., Jenni R., Klaassen S.
    Circ. Cardiovasc. Genet. 4:367-374(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LVNC10 ARG-490 AND LEU-873.
  36. "Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy."
    Wang Y., Wang Z., Yang Q., Zou Y., Zhang H., Yan C., Feng X., Chen Y., Zhang Y., Wang J., Zhou X., Ahmad F., Hui R., Song L.
    PLoS ONE 8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH4 VAL-490.

Entry informationi

Entry nameiMYPC3_HUMAN
AccessioniPrimary (citable) accession number: Q14896
Secondary accession number(s): A5PL00
, Q16410, Q6R2F7, Q9UE27, Q9UM53
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 28, 2012
Last modified: September 3, 2014
This is version 153 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi