Project 3 > Mutation Database > MYL2 mutations > IVS5-2A>G

The IVS5-2A>G mutation of human cardiac Regulatory Myosin Light Chain

SEQUENCE
intron 5
nucleotide change A>G
nucleotide pos. in gene 7535
UCSC Golden Path position 109813670
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
agccttgctctggccccttcatctctgggggaacttgggccctgctgcct
ggggtgccagtggttcccagccacccccagtacatgtaagccctgtgttc
cgtttcaggagcggaccctgaggaaaccattctcaacgcattcaaagtgt
ttgaccctgaaggcaaaggggtgctgaaggctgattagtgagtggggtct
gtgggggaggaagggggttccctgcttgccccctgtcccccctacacaca
cacaactgacaccaacacctgctttcctttctctgcGgcgttcgggaaat
gctgaccacgcaggcggagaggttttccaaggaggaggtaatggggtcct
tcaagcactccctctaacccagctcctgggttctccttctggggggctcc
gtctcccctctcgtctaaagcacccctgaccccaca


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
    Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
    Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)
 

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Last modified: April 24, 2006