MYBPC3 mutation Lys543fs

The Lys543fs mutation of human cardiac Myosin-Binding Protein C

(other names: K543fs)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	19
nucleotide change	del A
nucleotide pos. in gene	11496
UCSC Golden Path position	47320280
charge change
codon change	AAG>AG
transcript change	deletion,frameshift
translation change

mutated amplimer sequence:
acaggcacacgtgttttcacatgcccacatgcacccagacacgtgcgcac
cagcgcccatgggcccacacgccctccacagggattcacgccacacccac
acaccctcccgagctcaatggctctgccctgccctgcagaaAGaagctgg
aggtgtaccagagcatcgcagacctgatggtgggcgcaaaggaccaggcg
gtgttcaaatgtgaggtctcagatgagaatgttcggggtgtgtggctgaa
gaatgggaaggagctggtgcccgacagccgcataaaggtgtcccacatcg
ggcggtgagtgtgcagggcaggtggatgggacaggtggagactg

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 4/15/2005

References and comments

Peng, Duffy, Kucherlapati et al., 2005. (direct submission)

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Last modified: April 24, 2006