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Index > Protein center > MYBPC3(Gene name) > Human
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  • MYBPC3 (Gene name),
  • Myosin-binding protein C, cardiac-type (Protein name ),  MYPC3_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    MYBPC3;
    Protein name:
    Myosin-binding protein C, cardiac-type(Cardiac MyBP-C);
    Alternative:
    C-protein, cardiac muscle isoform;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    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.
    Subcellular Location:
    N/A
    Protein Attributes:
    Sequence length:
    1273
    Sequence:
    50:
    MPEPGKKPVS | AFSKKPRSVE | VAAGSPAVFE | AETERAGVKV | RWQRGGSDIS | 
    100:
    ASNKYGLATE | GTRHTLTVRE | VGPADQGSYA | VIAGSSKVKF | DLKVIEAEKA | 
    150:
    EPMLAPAPAP | AEATGAPGEA | PAPAAELGES | APSPKGSSSA | ALNGPTPGAP | 
    200:
    DDPIGLFVMR | PQDGEVTVGG | SITFSARVAG | ASLLKPPVVK | WFKGKWVDLS | 
    250:
    SKVGQHLQLH | DSYDRASKVY | LFELHITDAQ | PAFTGSYRCE | VSTKDKFDCS | 
    300:
    NFNLTVHEAM | GTGDLDLLSA | FRRTSLAGGG | RRISDSHEDT | GILDFSSLLK | 
    350:
    KSSSFRTPRD | SKLEAPAEED | VWEILRQAPP | SEYERIAFQY | GVTDLRGMLK | 
    400:
    RLKGMRRDEK | KSTAFQKKLE | PAYQVSKGHK | IRLTVELADH | DAEVKWLKNG | 
    450:
    QEIQMSGRYI | FESIGAKRTL | TISQCSLADD | AAYQCVVGGE | KCSTELFVKE | 
    500:
    PPVLITRPLE | DQLVMVGQRV | EFECEVSEEG | AQVKWLKDGV | ELTREETFKY | 
    550:
    RFKKDGQRHH | LIINEAMLED | AGHYALCTSG | GQALAELIVQ | EKKLEVYQSI | 
    600:
    ADLMVGAKDQ | AVFKCEVSDE | NVRGVWLKNG | KELVPDSRIK | VSHIGRVHKL | 
    650:
    TIDDVTPADE | ADYSFVPEGF | ACNLSAKLHF | MEVKIDFVPR | QEPPKIHLDC | 
    700:
    PGRIPDTIVV | VAGNKLRLDV | PISGDPAPTV | IWQKAITQGN | KAPARPAPDA | 
    750:
    PEDTGDSDEW | VFDKKLLCET | EGRVRVETTK | DRSIFTVEGA | EKEDEGVYTV | 
    800:
    TVKNPVGEDQ | VNLTVKVIDV | PDAPAAPKIS | NVGEDSCTVQ | WEPPAYDGGQ | 
    850:
    PILGYILERK | KKKSYRWMRL | NFDLIQELSH | EARRMIEGVV | YEMRVYAVNA | 
    900:
    IGMSRPSPAS | QPFMPIGPPS | EPTHLAVEDV | SDTTVSLKWR | PPERVGAGGL | 
    950:
    DGYSVEYCPE | GCSEWVAALQ | GLTEHTSILV | KDLPTGARLL | FRVRAHNMAG | 
    1000:
    PGAPVTTTEP | VTVQEILQRP | RLQLPRHLRQ | TIQKKVGEPV | NLLIPFQGKP | 
    1050:
    RPQVTWTKEG | QPLAGEEVSI | RNSPTDTILF | IRAARRVHSG | TYQVTVRIEN | 
    1100:
    MEDKATLVLQ | VVDKPSPPQD | LRVTDAWGLN | VALEWKPPQD | VGNTELWGYT | 
    1150:
    VQKADKKTME | WFTVLEHYRR | THCVVPELII | GNGYYFRVFS | QNMVGFSDRA | 
    1200:
    ATTKEPVFIP | RPGITYEPPN | YKALDFSEAP | SFTQPLVNRS | VIAGYTAMLC | 
    1250:
    CAVRGSPKPK | ISWFKNGLDL | GEDARFRMFS | KQGVLTLEIR | KPCPFDGGIY | 
    1273:
    VCRATNLQGE | ARCECRLEVR | VPQ
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    UniGene:
    KEGG:
    String:
    MIM:
    Pfam:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Cardiac MyBP-C
    Cat.:
    E9964h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human Cardiac MyBP-C
    MSDS:
    Please sign in first.
    ELISA Kit for Human Cardiac MyBP-C
    Cat.:
    E9964r
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    ELISA Kit for Human Cardiac MyBP-C
    Cat.:
    E9964m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Cardiac MyBP-C
    Cat.:
    U9964h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Cardiac MyBP-C
    MSDS:
    Please sign in first.
    CLIA Kit for Human Cardiac MyBP-C
    Cat.:
    U9964m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Cardiac MyBP-C
    Cat.:
    U9964r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Cardiac MyBP-C
    Cat.:
    P9964Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Cardiac MyBP-C
    Polyclonal Antibody for Human Cardiac MyBP-C
    Polyclonal Antibody for Human Cardiac MyBP-C
    Cat.:
    P9964Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Cardiac MyBP-C
    Monoclonal Antibody for Human Cardiac MyBP-C
    Monoclonal Antibody for Human Cardiac MyBP-C
    Monoclonal Antibody for Human Cardiac MyBP-C
    Protein for Human Cardiac MyBP-C
    Protein for Human Cardiac MyBP-C
    Protein for Human Cardiac MyBP-C
    Protein for Human Cardiac MyBP-C

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    Precision
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    Recovery
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    Linearity
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    References
    1. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT CMH4 GLN-820
      tissue: Heart.
    2. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS CMH4 GLN-542 AND GLN-820
    3. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS CMH4 GLN-451; GLN-495 AND GLN-502
    4. 4.
      NIEHS SNPs program
      Submitted (2004-01) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. 5.
      Rieder M.J. , Bertucci C. , Stanaway I.B. , Johnson E.J. , Swanson J.E. , Siegel D.L. , da Ponte S.H. , Igartua C. , Patterson K. , Nickerson D.A.
      Submitted (2009-11) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    6. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    7. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
    8. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 640-694
    9. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 641-770;CHARACTERIZATION OF VARIANTS HIS-654 AND LYS-755
    10. 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. NMR29:431-432(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 358-450;DISULFIDE BOND
    11. 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. D64:658-664(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.3 ANGSTROMS) OF 151-258
    12. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 151-258
    13. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 151-260;ZINC-BINDING SITE
    14. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH4 LYS-755
    15. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH4 HIS-654
    16. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT MET-896
    17. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH4 GLN-495;VARIANT GLN-326
    18. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 TRP-282; ARG-507; ARG-566 AND ILE-1115
    19. 19.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH4 THR-948;VARIANTS GLY-236 AND GLN-326
    20. 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.
      Circulation105:446-451(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 ALA-59 AND GLN-1002;VARIANT GLN-326
    21. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 LYS-258; HIS-810; GLN-820 AND HIS-873
    22. 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.
      Circulation107:2227-2232(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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. 23.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    24. 24.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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
    25. 25.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 SER-161; LYS-258; ASN-605; THR-833; TRP-834 AND THR-1131
    26. 26.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH4 GLN-820
    27. 27.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 SER-237; HIS-668 AND THR-833;VARIANTS GLN-326 AND MET-896
    28. 28.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 ASN-228; LYS-258; LYS-813 DEL AND THR-833
    29. 29.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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
    30. 30.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLY-236
    31. 31.
      "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. Acta351:209-216(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 LYS-258; ARG-263; SER-417; HIS-669 AND ASP-759
    32. 32.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 HIS-273; TRP-502 AND GLN-542;VARIANT GLN-326
    33. 33.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMH4 LYS-258; CYS-272; VAL-336; GLN-495; GLN-502; SER-957 AND ILE-958
    34. 34.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) 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
    35. 35.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMD1MM ARG-490; THR-833 AND PHE-1264
    36. 36.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LVNC10 ARG-490 AND LEU-873
    37. 37.
      "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 ONE8:E67087-E67087(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMH4 VAL-490
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