Project 3 > Mutation Database > TNNI3 mutations > Leu198Pro

The Leu198Pro mutation of human cardiac Troponin I

SEQUENCE
exon 8
nucleotide change t>c
nucleotide pos. in gene 6485
UCSC Golden Path position 60355054
charge change  
codon change CTG>CCG
transcript change  
translation change  


mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcacCgagtggaatggagggccgcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg


RESTRICTION ENZYME
no information

 
disease HCM

 
    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