MYBPC3 mutation Glu619Lys

The Glu619Lys mutation of human cardiac Myosin-Binding Protein C

(other names: E619K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	20
nucleotide change	G>A
nucleotide pos. in gene	12470
UCSC Golden Path position	47319307
charge change
codon change	GAG>AAG
transcript change	missense
translation change

mutated amplimer sequence:
agaataccaacaagccaggacaaggtgagggcctcctgggaccctggctg
gggtatctggcaaggccaggggtgtgtggcccagtggggtcccctgagcc
actgctcccctgcagggtccacaaactgaccattgacgacgtcacacctg
ccgacgaggctgactacagctttgtgcccAagggcttcgcctgcaacctg
tcagccaagctccacttcatgggtgagcctgctccagggtagggtgggtc
ggggcagtggggccaggagcccctgtcactgggccctgcctttgcccccg
tgctacttgctcttccttctcttgcagaggtcaagattgacttcgtaccc
aggcagggtaagtcttggggcccctgagtcttggttctgctcactttccc
gc

**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