Project 3 > Mutation Database > TNNT2 mutations > Lys124Asn

The Lys124Asn mutation of human cardiac Troponin T

SEQUENCE
exon 9
nucleotide change A>C
nucleotide pos. in gene 8869
UCSC Golden Path position 198065985
charge change  
codon change AAA>AAC
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
gccaggccctgccagaggtcttttgcactgcgttggggggtgtctagccc
acccatctctcctctggactctttggagtggcagcctctgagccgcagcg
gtccacccacaggacatccaccggaagcgcatggagaaggacctgaatga
gttgcaggcgctgatcgaggctcactttgagaacaggaagaaagaggagg
aggagctcgtttctctcaaCgacaggatcgtaggtgtccagtctgcccac
ctaacattctctgatggcccagtctgtcctccatcccttttgtgaggccc
cacctcctccagacagccttcctcggcgcctcaaacccagctaggtgtga
ggtctccttcagaggccctccagcattctgcacagctcctgcagccctga
ctggtttctcgggtccctgccttccctccccatcctactggatgctcctt
gactgccagagctgagtctgatctgtttcaggcctcccccaggg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. An FS, Zhang Y, Li DQ, Yang XS, Li L, Zhang C, Yan ML, Wang Y, An GP.
    [A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy]
    Zhonghua Yi Xue Za Zhi 2004 Aug 17;84(16):1340-3. (PubMed:15387941)
 

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Last modified: April 24, 2006