Project 3 > Mutation Database > MYBPC3 mutations > Ser593fs:2

The Ser593fs:2 mutation of human cardiac Myosin-Binding Protein C

(other names:  S593FS1, Del593C)

SEQUENCE
exon 19
nucleotide change del C
nucleotide pos. in gene 11646
UCSC Golden Path position 47320130
charge change  
codon change  
transcript change frameshift
translation change truncation


mutated amplimer sequence:
acaggcacacgtgttttcacatgcccacatgcacccagacacgtgcgcac
cagcgcccatgggcccacacgccctccacagggattcacgccacacccac
acaccctcccgagctcaatggctctgccctgccctgcagaaaagaagctg
gaggtgtaccagagcatcgcagacctgatggtgggcgcaaaggaccaggc
ggtgttcaaatgtgaggtctcagatgagaatgttcggggtgtgtggctga
agaatgggaaggagctggtgcccgacagccgcataaaggtgTCcacatcg
ggcggtgagtgtgcagggcaggtggatgggacaggtggagactg


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Konno T, Shimizu M, Ino H, Fujino N, Hayashi K, Uchiyama K, Kaneda T, Inoue M, Masuda E, Mabuchi H.
    Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
    J Intern Med. 2005 Sep;258(3):216-24. (PubMed:16115294)
 

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Last modified: April 24, 2006