Project 3 > Mutation Database > ACTC mutations > Glu101Lys

The Glu101Lys mutation of human cardiac alpha-Actin

(other names:  E101K, E99K)

SEQUENCE
exon 2
nucleotide change G>A
nucleotide pos. in gene 2411
UCSC Golden Path position 32872891
amino acid changeGlu>Lys
charge change +2
codon change GAG>AAG
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
ttcctgacatggtgagagcatgattttctcattttttcttctcataggga
gttatggtgggtatgggtcagaaggactcctacgtaggtgatgaagccca
gagcaagagaggcatcctgaccctgaagtatcccatcgagcatggtatca
tcaccaactgggacgacatggagaagatctggcaccacaccttctacaat
gagctccgtgtggctcccAaggagcaccccaccctgctcacagaggcccc
gctgaaccccaaggccaaccgggagaagatgactcagatcatgtttgaga
ccttcaatgtccctgccatgtacgtggccatccaggcagtgctatccctg
tatgcttctggccgtaccacaggtatgctgggctctggggacagttactg
atgaatcacattcccaagtcaccga


RESTRICTION ENZYME
restriction enzyme Ava I site lost

 
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. Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.
    Gene mutations in apical hypertrophic cardiomyopathy.
    Circulation. 2005 Nov 1;112(18):2805-11. (PubMed:16267253)
 

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Last modified: April 24, 2006