Project 3 > Mutation Database > TNNT2 mutations > Asn271Ile

The Asn271Ile mutation of human cardiac Troponin T

SEQUENCE
exon 15
nucleotide change A>T
nucleotide pos. in gene 14437
UCSC Golden Path position 198060417
charge change  
codon change  
transcript change  
translation change  


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


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
    Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
 

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Last modified: April 24, 2006