Project 3 > Mutation Database > MYH7 mutations > Gly584Arg

The Gly584Arg mutation of human beta-cardiac Myosin Heavy Chain

(other names:  G584R)

SEQUENCE
exon 16
nucleotide change G>C
nucleotide pos. in exon 172
nucleotide pos. in gene 11718
UCSC Golden Path position 22966772
amino acid changeGlyİArg
charge change  
codon change GGC>CGC
transcript change missense
translation change substitution


mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccCgcatcgtggactacaacatcattggctggctgcagaagaac
aaggatcctctcaatgagactgtcgtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga


RESTRICTION ENZYME
restriction enzyme Hpa II site lost
fragment sizes, wild-type strand (bp) 309, 159, 110
fragment sizes, mutant strand (bp) 468, 110

 
disease HCM

 
    References and comments
  1. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG.
    Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
    N Engl J Med 1992 Apr 23;326(17):1108-14. (PubMed:1552912)
  2. Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, Seidman JG, Seidman CE.
    Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
    Am J Hum Genet 1993 Dec;53(6):1180-5. (PubMed:8250038)
  3. Solomon et al., 1993. (PubMed:8335820)
 

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Last modified: April 24, 2006