Project 3 > Mutation Database > TNNI3 mutations > Pro82Thr

The Pro82Thr mutation of human cardiac Troponin I

SEQUENCE
exon 5
nucleotide change c>a
nucleotide pos. in gene 2600
UCSC Golden Path position 60359419
charge change  
codon change CCG>ACG
transcript change  
translation change  


mutated amplimer sequence:
acggggccttggaacagtggagaccaaactggagggtttagaagggcaga
ggcggttccccacgcctggtctttatcctgaagccccgggtggcgtgcgc
ttccctcccacccctctgcagactctgctgctgcagattgcaaagcaaga
gctggagcgagaggcggaggagcggcgcggagagaaggggcgcgctctga
gcacccgctgccagAcgctggagttggccgggctgggcttcgcggagctg
caggtaccggctcccaaggatgcgaggtttctagtcccggaattcagcag
tacagcctctatcccctcttctgctcggg


RESTRICTION ENZYME
no information

 
disease none

 
    References and comments
  1. Doolan A, Tebo M, Ingles J, Nguyen L, Tsoutsman T, Lam L, Chiu C, Chung J, Weintraub RG, Semsarian C.
    Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.
    J Mol Cell Cardiol 2005 Feb;38(2):387-93. Epub 2005 Jan 27. (PubMed:15698845)
 

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Last modified: April 24, 2006