Project 3 > Mutation Database > MYH7 mutations > Phe513Cys

The Phe513Cys mutation of human beta-cardiac Myosin Heavy Chain

(other names:  F513C)

SEQUENCE
exon 15
nucleotide change T>G
nucleotide pos. in exon 131
nucleotide pos. in gene 10902
UCSC Golden Path position 22967589
amino acid changePheÝCys
charge change  
codon change TTT>TGT
transcript change missense
translation change substitution


mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcaggaggagtacaagaagg
agggcatcgagtggacattcattgactGtggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc


RESTRICTION ENZYME
restriction enzyme Bst4C I site gained
fragment sizes, wild-type strand (bp) 247
fragment sizes, mutant strand (bp) 178, 69

 
disease HCM

 
    References and comments
  1. Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, et al..
    Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
    J Clin Invest 1994 Jan;93(1):280-5. (PubMed:8282798)
 

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Last modified: April 24, 2006