Project 3 > Mutation Database > MYH7 mutations > Asn602Ser

The Asn602Ser mutation of human beta-cardiac Myosin Heavy Chain

(other names:  N602S)

SEQUENCE
exon 16
nucleotide change A>G
nucleotide pos. in exon 227
nucleotide pos. in gene 11773
UCSC Golden Path position 22966717
amino acid changeAsnÝSer
charge change  
codon change AAT>AGT
transcript change missense
translation change substitution


mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccggcatcgtggactacaacatcattggctggctgcagaagaac
aaggatcctctcaGtgagactgtcgtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga


RESTRICTION ENZYME
restriction enzyme Dde I site gained
fragment sizes, wild-type strand (bp) 10, 7, 82, 24, 275, 51, 42, 64
fragment sizes, mutant strand (bp) 10, 7,82,24,44,231,51,42,64

 
disease HCM

 
    References and comments
  1. Marian AJ, Roberts R.
    Recent advances in the molecular genetics of hypertrophic cardiomyopathy.
    Circulation 1995 Sep 1;92(5):1336-47. (PubMed:7648684)
  2. Koyanagi T, Harada H, Nishi H, Kawai H, Yokota Y, Koga Y, Toshima H, Kimura A.
    Structural and functional aspects of cardiac beta-myosin heavy chain gene mutations in hypertrophic cardiomyopathy.
    Circulation, 1996, 94(8):I-110 (abstract)
 

citations & disclaimer | contact us

Last modified: April 24, 2006