Project 3 > Mutation Database > ACTC mutations > Pro166Ala

The Pro166Ala mutation of human cardiac alpha-Actin

(other names:  P166A, P164A)

SEQUENCE
exon 3
nucleotide change C>G
nucleotide pos. in gene 3281
UCSC Golden Path position 32872021
amino acid changePro>Ala
charge change 0
codon change CCC>GCC
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
gagcagtggtgttgtcctcaggaatttaccttgttcttgtctacttcccc
gggcaggcattgttctggactctggggatggtgtaactcacaatgtcGcc
atctatgagggctacgctttgccccatgccatcatgcgtctggatctggc
tggtcgggacctcactgactacctcatgaagatcctcactgagcgtggct
actcctttgtcaccactggtgagtgtgtgtgtctcatctgccacagtgtg
ggtctgctt


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L.
    Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.
    J Mol Cell Cardiol 2000 Sep;32(9):1687-94. (PubMed:10966831)
  2. Wong WW, Doyle TC, Cheung P, Olson TM, Reisler E.
    Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations.
    J Muscle Res Cell Motil 2001;22(8):665-74. (PubMed:12222827)
 

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Last modified: April 24, 2006