Project 3 > Mutation Database > MYH7 mutations > Lys246Gln

The Lys246Gln mutation of human beta-cardiac Myosin Heavy Chain

(other names:  K246Q)

SEQUENCE
exon 9
nucleotide change A>C
nucleotide pos. in exon 4
nucleotide pos. in gene 7971
UCSC Golden Path position 22970527
amino acid changeLysÝGln
charge change  
codon change AAA>CAA
transcript change missense
translation change substitution


mutated amplimer sequence:
gacaactcctcccgcttcgtgagtggtccctgaccttggccttgggactt
ggactggtggaggaatggtctcagatatgagccttcccccaactcatcac
cactctcttccatctctccaggggCaattcattcgaattcattttggggc
aacaggaaagttggcatctgcagacatagagacctgtgagtgccatgaat
ctgctaggctcagcctaagctcacccttgctctagaccatctggtcttga
cctctctctctctcccctccctccctctgtt


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Rottbauer W, Grunig E, Brown BD, Zehelein J, Scheffold T..
    A novel beta-myosin heavy chain mutation in a large family suffering from dilated and hypertrophic cardiomyopathy.
    Circulation 1996, 94(8):I-162, abstract #0943. (abstract)
 

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Last modified: April 24, 2006