MYBPC3 mutation Gly115ter

The Gly115ter mutation of human cardiac Myosin-Binding Protein C

(other names: G115X)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	4
nucleotide change	G>T
nucleotide pos. in gene	3117
UCSC Golden Path position	47328692
charge change
codon change	GGA>TGA
transcript change	truncation
translation change

mutated amplimer sequence:
ctgggacggggaggagaatgtgagaggcaggctggctctccagctcagca
tgagctgcctctgaggggcccaggcagcgggaggacagccatggcagact
ttcctcatccacagcgggctcatgggtccaatgctcaggagagagagggt
ggaggggtctctggttagtggctgcaccacgactcccatctgatcccctc
cagagaaggcagagcccatgctggcccctgcccctgcccctgctgaggcc
actTgagcccctggagaagccccggccccagccgctgagctgggagaaag
tgccccaagtcccaaaggtgagaggggctgggcagggaggggcaggatcc
gtgggtagggcgtgtccagggcaggtctcaaaagc

**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