Project 3 > Mutation Database > MYBPC3 mutations > IVS6-2A>C

The IVS6-2A>C mutation of human cardiac Myosin-Binding Protein C

(other names:  IVS5-2A>C)

SEQUENCE
intron 6
nucleotide change A>C
nucleotide pos. in gene 5137
UCSC Golden Path position 47326670
charge change  
codon change  
transcript change splice site alteration
translation change exon skip/deletion


mutated amplimer sequence:
ctggagctcctggtcttatgtgatccgcccgcctcagcctcccaaagtgg
ggattacaggcctgagccaccgcgcccggccactcccagtctcctttaag
ggtgcggagccttgtctcccggcccctggtgtcccctgacgccccgtccc
tccatgcacacCggtctatctgttcgagctgcacatcaccgatgcccagc
ctgccttcactggcagctaccgctgtgaggtgtccaccaaggacaaattt
gactgctccaacttcaatctcactgtccacggtgagggggccctggtgtc
tgtcctgggctcgggctccccatgggtcctggtctcctacctccttttcc
caacactaaggaggatgcctcgtcccatccagacatgagtgctggccacg
tgcccagtgctgcacacacagggtgtgagagaaaccccaaggcttgcagg
gtaggcgtgggggcttagggctgagtccgggtctcatctgggtgggactc
tgttttatcatcttggtgtcacggctcc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Jaaskelainen P, Kuusisto J, Miettinen R, Karkkainen P, Karkkainen S, Heikkinen S, Peltola P, Pihlajamaki J, Vauhkonen I, Laakso M.
    Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
    J Mol Med 2002 Jul;80(7):412-22. Epub 2002 Apr 11. (PubMed:12110947)
  2. Poutanen T, Tikanoja T, Jaaskelainen P, Jokinen E, Silvast A, Laakso M, Kuusisto J.
    Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.
    Am Heart J. 2006 Mar;151(3):725.e1-725.e9. (PubMed:16504640)
 

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Last modified: April 24, 2006