Project 3 > Mutation Database > MYH7 mutations > Arg243His

The Arg243His mutation of human beta-cardiac Myosin Heavy Chain

(other names:  R243H)

SEQUENCE
exon 8
nucleotide change G>A
nucleotide pos. in exon 89
nucleotide pos. in gene 7860
UCSC Golden Path position 22970638
amino acid changeArg>His
charge change 0
codon change CGC>CAC
transcript change missense
translation change substitution


mutated amplimer sequence:
gccctccaaggtcctgtaccgcagaagggagggagaagagctctcacctg
cctccttcttggcctctgcagggcaccctggaggaccagatcatccaggc
caaccctgctctggaggcctttggcaatgccaagaccgtccggaacgaca
actcctcccActtcgtgagtggtccctgaccttggccttgggacttggac


RESTRICTION ENZYME
restriction enzyme Aci I site lost
fragment sizes, wild-type strand (bp) 19, 42, 106, 180
fragment sizes, mutant strand (bp) 19, 181, 180

 
disease HCM
clinical consequencesapical

 
    References and comments
  1. Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.
    Gene mutations in apical hypertrophic cardiomyopathy.
    Circulation. 2005 Nov 1;112(18):2805-11. (PubMed:16267253)
 

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Last modified: April 24, 2006