Project 3 > Mutation Database > TNNI3 mutations > Gly203fs

The Gly203fs mutation of human cardiac Troponin I

(other names:  delGRKKKFESX +)

SEQUENCE
exon 8
nucleotide change del GGCCGCAAGAAAAAGTTTGAGAGCTGAGCCTTC
nucleotide pos. in gene 6499..6531
UCSC Golden Path position 60355040..60355008
charge change  
codon change  
transcript change frameshift
translation change  


mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgagtggaatggaGCtgcctactgcccctgccctgaggag
g


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Morner S, Richard P, Kazzam E, Hainque B, Schwartz K, Waldenstrom A.
    Deletion in the cardiac troponin I gene in a family from northern Sweden with hypertrophic cardiomyopathy.
    J Mol Cell Cardiol 2000 Mar;32(3):521-5. (PubMed:10731450)
  2. 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)
  3. Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A.
    Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
    J Mol Cell Cardiol 2003 Jul;35(7):841-9. (PubMed:12818575)
 

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Last modified: April 24, 2006