Project 3 > Mutation Database > TNNT2 mutations > Arg205Leu

The Arg205Leu mutation of human cardiac Troponin T

SEQUENCE
exon 13
nucleotide change G>T
nucleotide pos. in gene 12081
UCSC Golden Path position 198062773
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
cagggggtttggggagggttaggggacagggagggggcaatctggccagt
ttactctgcttcccacaccctccagacagagcggaaaagtgggaagaggc
agactgagcTggaaaagaagaagaagattctggctgagaggaggaaggtg
ctggccattgaccacctgaatgaagatcagctgaggtgggggctgggagg
aatggtcctggggcactgcccgcatctgctctgggaggggtcgggccaag
ggcacttcttgctgtgagccaccagagggcaggactgcctcacatatttt
cccatggcaagtttggtgggaccagagctgggccccagcaggtcgggcca
actcctttctgggctttgctgatggggaaagagaactgagcaggtgcccc
ac


RESTRICTION ENZYME
no information

 
disease DCM

 
    References and comments
  1. Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ.
    Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
    J Am Coll Cardiol 2004 Nov 16;44(10):2033-40. (PubMed:15542288)
 

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Last modified: April 24, 2006