Project 3 > Mutation Database > TNNT2 mutations > Glu163Lys

The Glu163Lys mutation of human cardiac Troponin T

(other names:  E163K)

SEQUENCE
exon 11
nucleotide change G>A
nucleotide pos. in gene 10690
UCSC Golden Path position 198064164
amino acid changeGluİLys
charge change  
codon change GAG>AAG
transcript change missense
translation change substitution


mutated amplimer sequence:
tgggagctaccctctcagaaagctccttgctgagcggagagaaagctgaa
ctcacccataaagaccacaagcttcagcccagaatcagggtttccaatcc
tttcccctaatttgctttcttcctccctgctgtaaatcaggaagagaggg
ctcgacgagaggaggagAagaacaggaggaaggctgaggatgaggcccgg
aagaagaaggctttgtccaacatgatgcattttgggggttacatccagaa
ggtaggtagggagcagcaggggttgccaggagatcctagtatagccctga
ggaatgaggtgtccactgcagcaggtagactttaggtcaggtcccaggaa
gagattcccagctgctgtg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG, et al..
    Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
    N Engl J Med 1995 Apr 20;332(16):1058-64. (PubMed:7898523)
  2. Palm T, Graboski S, Hitchcock-DeGregori SE, Greenfield NJ.
    Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
    Biophys J 2001 Nov;81(5):2827-37. (PubMed:11606294)
 

citations & disclaimer | contact us

Last modified: April 24, 2006