Project 3 > Mutation Database > MYBPC3 mutations > Val671fs

The Val671fs mutation of human cardiac Myosin-Binding Protein C

(other names:  V671fs)

SEQUENCE
exon 22
nucleotide change del CCCT, ins GG
nucleotide pos. in gene 13945..13948
UCSC Golden Path position 47317832..47317829
charge change  
codon change  
transcript change frameshift
translation change truncation


mutated amplimer sequence:
tcctcctggctctcccgtttctctgaactacattgtgtcttctgcagaac
ctcccaagatccacctggactgcccaggccgcataccagacaccattgtg
gttgtagctggaaataagctacgtctggacgtcGGtatctctggggaccc
tgctcccactgtgatctggcagaaggctatcacgcaggtactgtgggtcc
ctcctcagtctccccatctataagatgggtgtgtggaaccagccaagtgc
taggacctgctgcacaccccacccacatgtgcacgccctgctgttggcta
ccccgtgggagagactggtcagggggcaggcaaggtgggcagtgtgggtc
agggggtggaagaagcagcagaggggcgc


RESTRICTION ENZYME
no information

 
disease HCM

 

Date this novel mutation was originally posted on this website:   9/28/2001

    References and comments
  1. Barr, Seidman et al., 2001. (this study)


Clinical features of individuals in this study having the MYBPC3:Val671fs mutation.
pedigree sex height (in.) weight (lb.) age of onset age at exam NYHA Class LVWT, mm. LVED LVES LA EF, % diagnosis
HE F   167   37   10.5 48.3   36   HCM

citations & disclaimer | contact us

Last modified: June 18, 2008