Project 3 > Mutation Database > MYH7 mutations > Tyr501His

The Tyr501His mutation of human beta-cardiac Myosin Heavy Chain

(other names:  Y501H)

SEQUENCE
exon 15
nucleotide change T>C
nucleotide pos. in gene 10865
UCSC Golden Path position 22967626
amino acid changeTyr>His
charge change +1
codon change TAC>CAC
transcript change missense
translation change substitution, non-conservative


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcaggaggagCacaagaagg
agggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Gorham, Seidman et al., 2006. (this study)
 

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Last modified: April 24, 2006