Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(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)

Q14896

- MYPC3_HUMAN

UniProt

Q14896 - MYPC3_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 4 (28 Nov 2012)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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. cytosol Source: Reactome
    3. C zone Source: BHF-UCL
    4. sarcomere Source: BHF-UCL
    5. striated muscle myosin thick filament Source: BHF-UCL

    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.22 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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. 1 Publication
    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. 1 Publication
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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-typePRO_0000072693Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionineBy similarity
    Modified residuei275 – 2751Phosphoserine; by PKA and PKCBy similarity
    Modified residuei284 – 2841Phosphoserine; by PKA and PKCBy similarity
    Modified residuei304 – 3041Phosphoserine; by PKA and PKCBy similarity
    Disulfide bondi436 ↔ 443PROSITE-ProRule annotation

    Post-translational modificationi

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

    1
    1274
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ14896.

    Family & Domainsi

    Domains and Repeats

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

    Compositional bias

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

    Sequence similaritiesi

    Belongs to the immunoglobulin superfamily. MyBP family.Curated
    Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti248 – 2481D → E(PubMed:7744002)Curated
    Sequence conflicti248 – 2481D → E(PubMed:9048664)Curated
    Sequence conflicti302 – 3032RD → SS in AAR89909. 1 PublicationCurated
    Sequence conflicti536 – 5361A → R in CAA58882. (PubMed:7744002)Curated

    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. 1 Publication
    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. 1 Publication
    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. CuratedVSP_047141

    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

    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: October 1, 2014
    This is version 154 of the entry and version 4 of the sequence. [Complete history]<