Project 3 > Mutation Database > MYH7 mutations > Lys615Asn

The Lys615Asn mutation of human beta-cardiac Myosin Heavy Chain

(other names:  K615N)

SEQUENCE
exon 16
nucleotide change G>C
nucleotide pos. in exon 267
nucleotide pos. in gene 11813
UCSC Golden Path position 22966677
amino acid changeLysİAsn
charge change  
codon change AAG>AAC
transcript change missense
translation change substitution


mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccggcatcgtggactacaacatcattggctggctgcagaagaac
aaggatcctctcaatgagactgtcgtgggcttgtatcagaagtcttccct
caaCctgctcagcaccctgtttgccaactatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga


RESTRICTION ENZYME
restriction enzyme Sml I site lost
fragment sizes, wild-type strand (bp) 399, 179
fragment sizes, mutant strand (bp) 578

 
disease HCM

 
    References and comments
  1. Nishi H, Kimura A, Harada H, Toshima H, Sasazuki T.
    Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
    Biochem Biophys Res Commun 1992 Oct 15;188(1):379-87. (PubMed:1417858)
  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)
  3. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R.
    Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
    Clin Chim Acta 2005 Jan;351(1-2):209-16. (PubMed:15563892)
 

citations & disclaimer | contact us

Last modified: April 24, 2006