Project 3 > Mutation Database > TNNT2 mutations > Glu244Asp

The Glu244Asp mutation of human cardiac Troponin T

(other names:  E244D)

SEQUENCE
exon 14
nucleotide change G>T
nucleotide pos. in gene 12742
UCSC Golden Path position 198062112
amino acid changeGluŻAsp
charge change  
codon change GAG>GAT
transcript change missense
translation change substitution


mutated amplimer sequence:
ggagggccctttcttactggacctccccattctcacccttgcccgtgcag
ggagaaggccaaggagctgtggcagagcatctataacttggaTgcagaga
agttcgacctgcaggagaagttcaagcagcagaaatatgaggtgggccgc
catgctgtccccgcccagcatctccatctcacactcctcctggttcactg
ggtccgg


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. Yanaga F, Morimoto S, Ohtsuki I.
    Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.
    J Biol Chem 1999 Mar 26;274(13):8806-12. (PubMed:10085122)
  3. Moore, Seidman et al., 2004. (this study)
 

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Last modified: April 24, 2006