Project 3 > Mutation Database > MYH7 mutations > Ala428Val

The Ala428Val mutation of human beta-cardiac Myosin Heavy Chain

(other names:  A428V)

SEQUENCE
exon 14
nucleotide change C>T
nucleotide pos. in gene 10363
UCSC Golden Path position 22968128
amino acid changeAla>Val
charge change 0
codon change GCC>GTC
transcript change missense
translation change  


mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggTcaaggcagtgtatgagag
gatgttcaactggatggtgacgcgcatcaatgccaccctggagaccaagc
agccacgccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
    Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
  2. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.
    Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Aug 4;44(3):602-10. (PubMed:15358028)
 

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Last modified: April 24, 2006