Project 3 > Mutation Database > TNNI3 mutations > Lys183del

The Lys183del mutation of human cardiac Troponin I

(other names:  K183del)

mutated amplimer sequence:
gcctaagccgggaagagactggtaaggcctcggtactggaagacgagata
aggagaataaaaaaggagtgtaggatggaggagttgggtgtgcgggaaat
ggaaggagaagtacccaccccctcgtgtgcccccagattgcagatctgac
tcagaagatctttgaccttcgaggcaagtttaagcggcccaccctgcgga
gagtgaggatctctgcagatgccatgatgcaggcgctgctgggggcccgg
gctaaggagtccctggacctgcgggcccacctcaagcaggtgaagaagga
ggacaccgaGGtgagtgtgggctaaggccaggaaagaggatgctgagggg
aagggctgtgggtgccaacaaccctaggcctgagggcagatggtgcttgg
agttggaggtagaagcagctagtaaggggtcctc

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)
   • apical (1) and typical (1) HCM in same family
2. Kokado H, Shimizu M, Yoshio H, Ino H, Okeie K, Emoto Y, Matsuyama T, Yamaguchi M, Yasuda T, Fujino N, Ito H, Mabuchi H.
   Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.
   Circulation 2000 Aug 8;102(6):663-9. (PubMed:10931807)
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)
4. 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)
5. Konno T, Shimizu M, Ino H, Fujino N, Hayashi K, Uchiyama K, Kaneda T, Inoue M, Masuda E, Mabuchi H.
   Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
   J Intern Med. 2005 Sep;258(3):216-24. (PubMed:16115294)

citations & disclaimer | contact us

Last modified: April 24, 2006