Project 3 > Mutation Database > TNNI3 mutations > Arg204His

The Arg204His mutation of human cardiac Troponin I

SEQUENCE
exon 8
nucleotide change g>a
nucleotide pos. in gene 6503
UCSC Golden Path position 60355036
charge change  
codon change CGC>CAC
transcript change  
translation change  


mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgagtggaatggagggccAcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. 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)
  2. 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