Project 3 > Mutation Database > TNNT2 mutations > Asp270Asn

The Asp270Asn mutation of human cardiac Troponin T

SEQUENCE
exon 15
nucleotide change G>A
nucleotide pos. in gene 14433
UCSC Golden Path position 198060421
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
gcccctcctgacccttaactatcctaacccctcctactcttccatgctcc
tccttctcctcctgcactgctgcactcagcccccttctccccatccccag
gccacctgggacctgagccagtcagctccagcgttgctctttgtccttcc
cacttttcttgcagatcaatgttctccgaaacaggatcaacAataaccag
aaagtgtaagtgtctgaggtcattctcgcctagccctccccctgccccct
ccttccctaccttccagctatcccattcctccttggagggccccaggctc
ccagcccttcctcctctgcttcagcccacaggtttccttctctggctcct
ccg


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