Project 3 > Mutation Database > TNNT2 mutations > Lys273Glu

The Lys273Glu mutation of human cardiac Troponin T

(other names:  K273E)

SEQUENCE
exon 15
nucleotide change A>G
nucleotide pos. in gene 14442
UCSC Golden Path position 198060412
amino acid changeLys>Glu
charge change -2
codon change AAA>GAA
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
gcccctcctgacccttaactatcctaacccctcctactcttccatgctcc
tccttctcctcctgcactgctgcactcagcccccttctccccatccccag
gccacctgggacctgagccagtcagctccagcgttgctctttgtccttcc
cacttttcttgcagatcaatgttctccgaaacaggatcaacgataaccag
Gaagtgtaagtgtctgaggtcattctcgcctagccctccccctgccccct
ccttccctaccttccagctatcccattcctccttggagggccccaggctc
ccagcccttcctcctctgcttcagcccacaggtttccttctctggctcct
ccg


RESTRICTION ENZYME
restriction enzyme Mva I site gained

 
disease HCM
clinical consequenceshigh penetrance above age 20, high incidence of sudden death, transition from HCM to DCM.

 
    References and comments
  1. Fujino N, Shimizu M, Ino H, Yamaguchi M, Yasuda T, Nagata M, Konno T, Mabuchi H.
    A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy.
    Am J Cardiol 2002 Jan 1;89(1):29-33. (PubMed:11779518)
  2. Venkatraman G, Harada K, Gomes AV, Kerrick WG, Potter JD.
    Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
    J Biol Chem 2003 Oct 24;278(43):41670-6. Epub 2003 Aug 14. (PubMed:12923187)
  3. 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)
 

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Last modified: April 24, 2006