Project 3 > Mutation Database > TNNI3 mutations > Arg162Gln

The Arg162Gln mutation of human cardiac Troponin I

(other names:  R162Q)

SEQUENCE
exon 7
nucleotide change G>A
nucleotide pos. in gene 4745
UCSC Golden Path position 60357274
amino acid changeArg>Gln
charge change -1
codon change CGG>CAG
transcript change missense
translation change substitution


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


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ.
    Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.
    Circulation 2003 Jul 29;108(4):445-51. Epub 2003 Jul 14. (PubMed:12860912)
  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. 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)
  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)
  5. 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