Project 3 > Mutation Database > MYBPC3 mutations > Trp683ter

The Trp683ter mutation of human cardiac Myosin-Binding Protein C

(other names:  W683X, G13980A)

SEQUENCE
exon 22
nucleotide change G>A
nucleotide pos. in gene 13980
UCSC Golden Path position 47317797
charge change  
codon change tgg>tag
transcript change Termination codon
translation change  


mutated amplimer sequence:
tcctcctggctctcccgtttctctgaactacattgtgtcttctgcagaac
ctcccaagatccacctggactgcccaggccgcataccagacaccattgtg
gttgtagctggaaataagctacgtctggacgtccctatctctggggaccc
tgctcccactgtgatctAgcagaaggctatcacgcaggtactgtgggtcc
ctcctcagtctccccatctataagatgggtgtgtggaaccagccaagtgc
taggacctgctgcacaccccacccacatgtgcacgccctgctgttggcta
ccccgtgggagagactggtcagggggcaggcaaggtgggcagtgtgggtc
agggggtggaagaagcagcagaggggcgc


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)
 

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Last modified: April 24, 2006