Project 3 > Mutation Database > TNNI3 mutations > Arg145Trp

The Arg145Trp mutation of human cardiac Troponin I

(other names:  R145W)

SEQUENCE
exon 7
nucleotide change A>T
nucleotide pos. in gene 4693
UCSC Golden Path position 60357326
amino acid changeArg>Trp
charge change -1
codon change AGG>TGG
transcript change missense
translation change substitution


mutated amplimer sequence:
gcctaagccgggaagagactggtaaggcctcggtactggaagacgagata
aggagaataaaaaaggagtgtaggatggaggagttgggtgtgcgggaaat
ggaaggagaagtacccaccccctcgtgtgcccccagattgcagatctgac
tcagaagatctttgaccttcgaggcaagtttaagcggcccaccctgTgga
gagtgaggatctctgcagatgccatgatgcaggcgctgctgggggcccgg
gctaaggagtccctggacctgcgggcccacctcaagcaggtgaagaagga
ggacaccgagaaggtgagtgtgggctaaggccaggaaagaggatgctgag
gggaagggctgtgggtgccaacaaccctaggcctgagggcagatggtgct
tggagttggaggtagaagcagctagtaaggggtcctc


RESTRICTION ENZYME
no information

 
disease Restrictive CM

 
    References and comments
  1. Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ.
    Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
    J Clin Invest 2003 Jan;111(2):209-16. (PubMed:12531876)
  2. Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.
    Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Dec 21;44(12):2315-25. (PubMed:15607392)
  3. Gomes AV, Liang J, Potter JD.
    Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development.
    J Biol Chem. 2005 Sep 2;280(35):30909-15. Epub 2005 Jun 15. (PubMed:15961398)
  4. Cheng TO.
    Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.
    J Am Coll Cardiol 2005 Jul 5;46(1):180-1; author reply 181. (PubMed:15992656)
 

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Last modified: April 24, 2006