Project 3 > Mutation Database > MYL2 mutations > IVS6-1G>C

The IVS6-1G>C mutation of human cardiac Regulatory Myosin Light Chain

SEQUENCE
intron 6
nucleotide change G>C
nucleotide pos. in gene 9505
UCSC Golden Path position 109811700
charge change  
codon change  
transcript change splicing, truncation
translation change truncation


mutated amplimer sequence:
agatggccgtgcctttatacccccacaccaatcccatccgctggctgtgg
gctgccccagaaagggcatgaccttgggcgagggggccctgcagcagctg
gggaagtccttccccggaggaccctctgagtggcccatgttcccatcccc
caccccccagctatccgtccactcaggccccgcccacagccccccaccct
ccgtctcagttcccctcccctcgtccttagcacgtgttgctggctcattg
caCgttgaccagatgttcgccgccttcccccctgacgtgactggcaactt
ggactacaagaacctggtgcacatcatcacccacggagaagagaaggact
aggagggggctcgctgctgcgccctgggctcgtctttgcagagtggtccc
tgccctcatctctctcccccgagtaccgcctctgtccctaccttgtctgt
tagccatgtggctgccccatttatccacctccatcttctttgcagcctgg
gtggctatgggtacttcgtggccgcacatcctacagttggaaatccatcc
agaggccatgttccaataaacaggaggtcgtgtatttggtcacgacattt
ctctgacaaacagtgccttgtgtaaggaaggcaaaggcagatgagctagt
gacagccttgcagtcattattattgaatcttggtgactctttatttaagg
tagacctttgcagccactcagaactgtttc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Andersen et al., 1999. (abstract)
  2. Andersen PS, Havndrup O, Bundgaard H, Moolman-Smook JC, Larsen LA, Mogensen J, Brink PA, Borglum AD, Corfield VA, Kjeldsen K, Vuust J, Christiansen M.
    Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
    J Med Genet. 2001 Dec;38(12):E43. (PubMed:11748309)
 

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Last modified: April 24, 2006