Project 3 > Mutation Database > MYBPC3 mutations > IVS18+4A>T

The IVS18+4A>T mutation of human cardiac Myosin-Binding Protein C

(other names:  Int18 DS A+4T)

SEQUENCE
intron 18
nucleotide change A>T
nucleotide pos. in gene 11075
UCSC Golden Path position 47320701
charge change  
codon change  
transcript change splice site alteration
translation change  


mutated amplimer sequence:
ggaggagggggcgcaagtcaaatggtgagttccagaagcacggggcatgg
gtgttgggggcatctgcccagaagaggccacagcacttgccacccaccca
cccggctaggctgaaggacggggtggagctgacccgggaggagaccttca
aataccggttcaagaaggacgggcagagacaccacctgatcatcaacgag
gccatgctggaggacgcggggcactatgcactgtgcactagcgggggcca
ggcgctggctgagctcattgtgcagggtgTgcctggctgggggggcacat
gaggctttagggcttggacccctcagcccccaccccacctagccctgtag
gggagcaggcaaacctgggctcaaggcctctgtgaccttgggcctttgac


RESTRICTION ENZYME
restriction enzyme BstAP I site gained

 
disease HCM

 

Date this novel mutation was originally posted on this website:   6/9/2003

    References and comments
  1. Fujino, Seidman et al., 2003. (this study)
  2. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C.
    Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
    J Med Genet. 2005 Oct;42(10):e59. (PubMed:16199542)


Clinical features of individuals in this study having the MYBPC3:IVS18+4A>T mutation.
pedigree sex height (in.) weight (lb.) age of onset age at exam NYHA Class LVWT, mm. LVED LVES LA EF, % diagnosis
FQ F 64 146   34   26 43 23 38 55 HCM

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Last modified: April 24, 2006