Project 3 > Mutation Database > MYBPC3 mutations > Arg654His

The Arg654His mutation of human cardiac Myosin-Binding Protein C

(other names:  R654H, Arg645His, R645H)

SEQUENCE
exon 22
nucleotide change G>A
nucleotide pos. in gene 13893
UCSC Golden Path position 47317884
amino acid changeArgİHis
charge change  
codon change CGC>CAC
transcript change missense
translation change substitution


mutated amplimer sequence:
tcctcctggctctcccgtttctctgaactacattgtgtcttctgcagaac
ctcccaagatccacctggactgcccaggccAcataccagacaccattgtg
gttgtagctggaaataagctacgtctggacgtccctatctctggggaccc
tgctcccactgtgatctggcagaaggctatcacgcaggtactgtgggtcc
ctcctcagtctccccatctataagatgggtgtgtggaaccagccaagtgc
taggacctgctgcacaccccacccacatgtgcacgccctgctgttggcta
ccccgtgggagagactggtcagggggcaggcaaggtgggcagtgtgggtc
agggggtggaagaagcagcagaggggcgc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Moolman-Smook JC, Mayosi B, Brink P, Corfield VA.
    Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
    J Med Genet 1998 Mar;35(3):253-4. (PubMed:9541115)
  2. Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA.
    The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
    Am J Hum Genet 1999 Nov;65(5):1308-20. (PubMed:10521296)
  3. Moolman-Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, Watkins H.
    Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.
    Circ Res 2002 Oct 18;91(8):704-11. (PubMed:12386147)
 

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Last modified: April 24, 2006