MYBPC3 mutation Lys565ter

The Lys565ter mutation of human cardiac Myosin-Binding Protein C

(other names: K565X)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	19
nucleotide change	A>T
nucleotide pos. in gene	11561
UCSC Golden Path position	47320215
amino acid change	LysÝter
charge change
codon change	AAA>TAA
transcript change	nonsense
translation change	truncation

mutated amplimer sequence:
acaggcacacgtgttttcacatgcccacatgcacccagacacgtgcgcac
cagcgcccatgggcccacacgccctccacagggattcacgccacacccac
acaccctcccgagctcaatggctctgccctgccctgcagaaaagaagctg
gaggtgtaccagagcatcgcagacctgatggtgggcgcaaaggaccaggc
ggtgttcTaatgtgaggtctcagatgagaatgttcggggtgtgtggctga
agaatgggaaggagctggtgcccgacagccgcataaaggtgtcccacatc
gggcggtgagtgtgcagggcaggtggatgggacaggtggagactg

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A.
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
J Mol Cell Cardiol 2003 Jul;35(7):841-9. (PubMed:12818575)

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Last modified: April 24, 2006