Project 3 > Mutation Database > TNNI3 mutations > Ala2Val

The Ala2Val mutation of human cardiac Troponin I

SEQUENCE
exon 1
nucleotide change c>t
nucleotide pos. in gene 1254
UCSC Golden Path position 60360765
charge change  
codon change GCG>GTG
transcript change  
translation change  


mutated amplimer sequence:
tcacgcgcccccgttatctggcatagtgggcagggggaggaggaggtgac
agtatatttagtctgtgtcctcgccctttatctcagtgtcctcggggagt
ctcaagcagcccggaggagactgacggtccctgggaccctgaaggtcacc
cgggcggccccctcactgaccctccaaacgcccctgtcctcgccctgcct
cctgccattcccggcctgagtctcagcatggTggatgggtgagtgatgcc
ccaaggcagtggggagttgggggcgacctcccgggttcccaagaggggtc
gcagctgagaggctggacccaaggcctgcgaggatggcgtagggactctt
ccctgaagagaggaagtgggtttgcgagtcagactcctggaacccaagga
aggggaagctcggtcccccgacctcttgttcataggggactccaggggtc


RESTRICTION ENZYME
no information

 
disease DCM, recessive

 
    References and comments
  1. Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ.
    Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
    Lancet 2004 Jan 31;363(9406):371-2. (PubMed:15070570)
 

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Last modified: April 24, 2006