Project 3 > Mutation Database > MYH7 mutations > Val39Met

The Val39Met mutation of human beta-cardiac Myosin Heavy Chain

(other names:  V39M)

SEQUENCE
exon 3
nucleotide change G>A
nucleotide pos. in gene 5835
UCSC Golden Path position 22972667
amino acid changeVal>Met
charge change 0
codon change GTG>ATG
transcript change missense
translation change substitution


mutated amplimer sequence:
tcttgactcttgagcatggtgctaggttttggggctcccactgaagggga
gagcccagggagggaagggaagaatgggcagatgggagggcagccagctt
ctgctcactccaggcacagccatgggagattcggagatggcagtctttgg
ggctgccgccccctacctgcgcaagtcagagaaggagcggctagaagcgc
agaccaggccttttgacctcaagaaggatgtcttcAtgcctgatgacaaa
caggagtttgtcaaggccaagatcgtgtctcgagagggtggcaaagtcac
tgccgagactgagtatggcaaggtgggtgtcaggctgatgtgagagtcca
ccctggccacctgtacacctgggtggacaga


RESTRICTION ENZYME
restriction enzyme Nla III site gained

 
disease HCM

 

Date this novel mutation was originally posted on this website:   9/28/2001

    References and comments
  1. Barr, Seidman et al., 2001. (this study)
  2. 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)


Clinical features of individuals in this study having the MYH7:Val39Met mutation.
pedigree sex height (in.) weight (lb.) age of onset age at exam NYHA Class LVWT, mm. LVED LVES LA EF, % diagnosis
SS-199 M 69 175 48 48   12 54 32 42 71 HCM

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Last modified: April 24, 2006