Project 3 > Mutation Database > ACTC mutations > Tyr168Cys

The Tyr168Cys mutation of human cardiac alpha-Actin

(other names:  Y168C, Y166C)

SEQUENCE
exon 3
nucleotide change A>G
nucleotide pos. in gene 3288
UCSC Golden Path position 32872014
amino acid changeTyr>Cys
charge change 0
codon change TAT>TGT
transcript change missense
translation change substitution


mutated amplimer sequence:
gagcagtggtgttgtcctcaggaatttaccttgttcttgtctacttcccc
gggcaggcattgttctggactctggggatggtgtaactcacaatgtcccc
atctGtgagggctacgctttgccccatgccatcatgcgtctggatctggc
tggtcgggacctcactgactacctcatgaagatcctcactgagcgtggct
actcctttgtcaccactggtgagtgtgtgtgtctcatctgccacagtgtg
ggtctgctt


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, Haltern G, Lapp H, Reinecke P, Gregersen N, Borglum AD.
    Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.
    J Med Genet 2004 Jan;41(1):e10. (PubMed:14729850)
 

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Last modified: April 24, 2006