Project 3 > Mutation Database > TNNI3 mutations > Leu144Pro

The Leu144Pro mutation of human cardiac Troponin I

(other names:  L144P)

SEQUENCE
exon 7
nucleotide change T>C
nucleotide pos. in gene 4691
UCSC Golden Path position 60357328
amino acid changeLeu>Pro
charge change 0
codon change CTG>CCG
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
gcctaagccgggaagagactggtaaggcctcggtactggaagacgagata
aggagaataaaaaaggagtgtaggatggaggagttgggtgtgcgggaaat
ggaaggagaagtacccaccccctcgtgtgcccccagattgcagatctgac
tcagaagatctttgaccttcgaggcaagtttaagcggcccacccCgcgga
gagtgaggatctctgcagatgccatgatgcaggcgctgctgggggcccgg
gctaaggagtccctggacctgcgggcccacctcaagcaggtgaagaagga
ggacaccgagaaggtgagtgtgggctaaggccaggaaagaggatgctgag
gggaagggctgtgggtgccaacaaccctaggcctgagggcagatggtgct
tggagttggaggtagaagcagctagtaaggggtcctc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Merk, Seidman et al., 2005. (this study)
 

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Last modified: April 24, 2006