The Met435Thr mutation of human beta-cardiac Myosin Heavy Chain

(other names:  M435T)

SEQUENCE
exon 14
nucleotide change T>C
nucleotide pos. in gene 10384
UCSC Golden Path position 22968107
amino acid changeMet>Thr
charge change 0
codon change ATG>ACG
transcript change missense
translation change  


mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggccaaggcagtgtatgagag
gaCgttcaactggatggtgacgcgcatcaatgccaccctggagaccaagc
agccacgccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Sawyer et al., 2003. (on-line)
 

Last modified: April 24, 2006