Project 3 > Mutation Database > TNNI3 mutations > Lys206Gln

The Lys206Gln mutation of human cardiac Troponin I

(other names:  K206Q)

SEQUENCE
exon 8
nucleotide change A>C
nucleotide pos. in gene 6508
UCSC Golden Path position 60355031
amino acid changeLys>Gln
charge change -1
codon change AAA>CAA
transcript change missense
translation change substitution


mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgagtggaatggagggccgcaagCaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg


RESTRICTION ENZYME
no information

 
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. Kohler J, Chen Y, Brenner B, Gordon AM, Kraft T, Martyn DA, Regnier M, Rivera AJ, Wang CK, Chase PB.
    Familial hypertrophic cardiomyopathy mutations in troponin I (K183D, G203S, K206Q) enhance filament sliding.
    Physiol Genomics 2003 Jul 7;14(2):117-28. (PubMed:12759477)
 

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Last modified: April 24, 2006