Project 3 > Mutation Database > TNNI3 mutations > Arg145Gln

The Arg145Gln mutation of human cardiac Troponin I

(other names:  R145Q)

SEQUENCE
exon 7
nucleotide change G>A
nucleotide pos. in gene 4694
UCSC Golden Path position 60357325
amino acid changeArg>Gln
charge change -1
codon change CGG>CAG
transcript change missense
translation change substitution


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


RESTRICTION ENZYME
restriction enzyme Pst I 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. 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)
  3. 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)
 

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Last modified: April 24, 2006