Project 3 > Mutation Database > TNNI3 mutations > Ser199Asn

The Ser199Asn mutation of human cardiac Troponin I

SEQUENCE
exon 8
nucleotide change g>a
nucleotide pos. in gene 6488
UCSC Golden Path position 60355051
charge change  
codon change AGT>AAT
transcript change  
translation change  


mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgaAtggaatggagggccgcaagaaaaagtttgagagctg
agccttcctgcctactgcccctgccctgaggagg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ.
    Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Dec 21;44(12):2315-25. (PubMed:15607392)
  2. Brito D, Madeira H.
    Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?
    Rev Port Cardiol. 2005 Sep;24(9):1137-46. (PubMed:16335287)
 

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Last modified: April 24, 2006