Project 3 > Mutation Database > TNNT2 mutations > Ala172Ser

The Ala172Ser mutation of human cardiac Troponin T

(other names:  A171S)

SEQUENCE
exon 11
nucleotide change G>T
nucleotide pos. in gene 10717
UCSC Golden Path position 198064137
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
tgggagctaccctctcagaaagctccttgctgagcggagagaaagctgaa
ctcacccataaagaccacaagcttcagcccagaatcagggtttccaatcc
tttcccctaatttgctttcttcctccctgctgtaaatcaggaagagaggg
ctcgacgagaggaggaggagaacaggaggaaggctgaggatgagTcccgg
aagaagaaggctttgtccaacatgatgcattttgggggttacatccagaa
ggtaggtagggagcagcaggggttgccaggagatcctagtatagccctga
ggaatgaggtgtccactgcagcaggtagactttaggtcaggtcccaggaa
gagattcccagctgctgtg


RESTRICTION ENZYME
no information

 
disease DCM

 
    References and comments
  1. Stefanelli CB, Rosenthal A, Borisov AB, Ensing GJ, Russell MW.
    Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.
    Mol Genet Metab 2004 Sep-Oct;83(1-2):188-96. (PubMed:15464434)
 

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Last modified: April 24, 2006