Project 3 > Mutation Database > ACTC mutations > Ala333Pro

The Ala333Pro mutation of human cardiac alpha-Actin

(other names:  A333P, A331P)

SEQUENCE
exon 6
nucleotide change G>C
nucleotide pos. in gene 5260
UCSC Golden Path position 32870042
amino acid changeAla>Pro
charge change 0
codon change GCT>CCT
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
ttggaacttcagagttcactggaagtttttgttttctttctgcagattat
tCctccccctgagcgtaaatactctgtctggattgggggctccatcctgg
cctctctgtccaccttccagcaaatgtggattagcaagcaagagtacgat
gaggcaggcccatccattgtccaccgcaaatgcttctaagatgccttctc
tctccatctaccttccagtcaggatgacggtattatgcttctt


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