Project 3 > Mutation Database > TNNI3 mutations > Arg162Pro

The Arg162Pro mutation of human cardiac Troponin I

SEQUENCE
exon 7
nucleotide change g>c
nucleotide pos. in gene 4745
UCSC Golden Path position 60357274
charge change  
codon change CGG>CCG
transcript change  
translation change  


mutated amplimer sequence:
gcctaagccgggaagagactggtaaggcctcggtactggaagacgagata
aggagaataaaaaaggagtgtaggatggaggagttgggtgtgcgggaaat
ggaaggagaagtacccaccccctcgtgtgcccccagattgcagatctgac
tcagaagatctttgaccttcgaggcaagtttaagcggcccaccctgcgga
gagtgaggatctctgcagatgccatgatgcaggcgctgctgggggcccCg
gctaaggagtccctggacctgcgggcccacctcaagcaggtgaagaagga
ggacaccgagaaggtgagtgtgggctaaggccaggaaagaggatgctgag
gggaagggctgtgggtgccaacaaccctaggcctgagggcagatggtgct
tggagttggaggtagaagcagctagtaaggggtcctc


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. Doolan A, Tebo M, Ingles J, Nguyen L, Tsoutsman T, Lam L, Chiu C, Chung J, Weintraub RG, Semsarian C.
    Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
    J Mol Cell Cardiol 2005 Feb;38(2):387-93. Epub 2005 Jan 27. (PubMed:15698845)
  3. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.
    Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
    J Med Genet. 2005 Oct;42(10):e59. (PubMed:16199542)
 

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Last modified: April 24, 2006