Project 3 > Mutation Database > MYBPC3 mutations > Thr343fs

The Thr343fs mutation of human cardiac Myosin-Binding Protein C

(other names:  T343fs, Del C 343)

SEQUENCE
exon 13
nucleotide change del c
nucleotide pos. in gene 7411
UCSC Golden Path position 47324396
charge change  
codon change  
transcript change  
translation change  


mutated amplimer sequence:
tccccagcccctcttcagctcccttggcccccagtcctgcctggcctggg
acccagagcagctccagctgccccaccagaagggaaggggcagagggaca
ggggtggctacagctccttggtcctgggcccaggaagccccgcccagggg
gctgcagtcttgcccccggccacagcctagactgcgggacacagggactc
gaagctggaggcaccagcagaggaggacgtgtgggagatcctacggcagg
cacccccatctgagtacgagcgcatcgccttccagtacggcgtcATgacc
tgcgcggcatgctaaagaggctcaagggcatgaggcgcgatgagaagaag
agcacaggttagcccttcctcagaggggagaggagagggcacaggctagc
ccttccctacacaggagaggagagggcataggttagcccttccccacagg
gagaggagagggcacaggttagccccccacctcgtccacatacatggaaa
gagcggagtccggc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.
    Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
    Clin Genet 2003 Oct;64(4):339-49. (PubMed:12974739)
 

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Last modified: April 24, 2006