Project 3 > Mutation Database > MYH7 mutations > Tyr162Cys

The Tyr162Cys mutation of human beta-cardiac Myosin Heavy Chain

(other names:  Y162C)

SEQUENCE
exon 5
nucleotide change A>G
nucleotide pos. in exon 140
nucleotide pos. in gene 6796
UCSC Golden Path position 22971705
amino acid changeTyrĘCys
charge change  
codon change TAT>TGT
transcript change missense
translation change substitution


mutated amplimer sequence:
atctttctctaactcccaaaatcaccagccctcccccttcgcaactggca
agtcactgctccttttctatccccagacctactcgggcctcttctgtgtc
accgtcaacccttacaagtggctgccggtgtacactcctgaggtggtggc
tgcctaccggggcaagaagaggagcgaggccccgccccacatcttctcca
tctccgacaacgcctGtcagtacatgctgacaggtgagaggccctggaag
gtcttcctgaagggaactgggataggccgggagggagagggagaaggaag
ggagaagccccacgagagcatcctgtgcagctcctgacctttcctcccca
ccctctccccacagacagagaaaaccagtccatcctgatcacgtgagt


RESTRICTION ENZYME
no information

 
disease HCM

 
    References and comments
  1. Rayment I, Holden HM, Sellers JR, Fananapazir L, Epstein ND.
    Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
    Proc Natl Acad Sci U S A 1995 Apr 25;92(9):3864-8. (PubMed:7731997)
  2. Cuda G, Fananapazir L, Epstein ND, Sellers JR.
    The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.
    J Muscle Res Cell Motil 1997 Jun;18(3):275-83. (PubMed:9172070)
 

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Last modified: April 24, 2006