Project 3 > Mutation Database > TNNI3 mutations > Glu202Gly

The Glu202Gly mutation of human cardiac Troponin I

SEQUENCE
exon 8
nucleotide change a>g
nucleotide pos. in gene 6497
UCSC Golden Path position 60355042
charge change  
codon change GAG>GGG
transcript change  
translation change  


mutated amplimer sequence:
tggggaaaattggcagggattatcttgaaaagacaggaagtgctccagaa
ctagatacttaggcatccagggtagagtggccccacaggctggagggaag
acagggattcttgagagactggagaccaagaagagaccctaacctctgac
tcatcgccatcctccaggaaaaccgggaggtgggagactggcgcaagaac
atcgatgcactgagtggaatggGgggccgcaagaaaaagtttgagagctg
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)
 

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Last modified: April 24, 2006