Project 3 > Mutation Database > TNNI3 mutations > Arg162Trp

The Arg162Trp mutation of human cardiac Troponin I

(other names:  R162W)

SEQUENCE
exon 7
nucleotide change C>T
nucleotide pos. in gene 4744
UCSC Golden Path position 60357275
amino acid changeArg>Trp
charge change -1
codon change CGG>TGG
transcript change missense
translation change substitution, non-conservative


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


RESTRICTION ENZYME
restriction enzyme EcoR II site gained

 
disease HCM

 
    References and comments
  1. Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T.
    Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
    Nat Genet 1997 Aug;16(4):379-82. (PubMed:9241277)
  2. Elliott K, Watkins H, Redwood CS.
    Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
    J Biol Chem 2000 Jul 21;275(29):22069-74. (PubMed:10806205)
  3. Takahashi-Yanaga F, Morimoto S, Harada K, Minakami R, Shiraishi F, Ohta M, Lu QW, Sasaguri T, Ohtsuki I.
    Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.
    J Mol Cell Cardiol 2001 Dec;33(12):2095-107. (PubMed:11735257)
 

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Last modified: April 24, 2006