Project 3 > Mutation Database > MYH7 mutations > Ile511Thr

The Ile511Thr mutation of human beta-cardiac Myosin Heavy Chain

(other names:  I511T)

SEQUENCE
exon 15
nucleotide change T>C
nucleotide pos. in gene 10896
UCSC Golden Path position 22967595
amino acid changeIle>Thr
charge change 0
codon change ATT>ACT
transcript change missense
translation change  


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcaggaggagtacaagaagg
agggcatcgagtggacattcaCtgactttggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.
    Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
    J Am Coll Cardiol 2004 Aug 4;44(3):602-10. (PubMed:15358028)
 

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Last modified: April 24, 2006