MYBPC3 mutation Arg177Cys

The Arg177Cys mutation of human cardiac Myosin-Binding Protein C

(other names: R177C)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	6
nucleotide change	C>T
nucleotide pos. in gene	3781
UCSC Golden Path position	47328026
amino acid change	Arg>Cys
charge change	-1
codon change	CGC>TGC
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
gggcacctgcggtcccagctaacttgggaggctgaggcaggagaatggtg
tgaacctgggaggcggagcttgcagtgagccgagattgtgcctctgcact
ccagcctgggtgacagagcaagactccatctcaaacaaacagaaaaagcc
tttgctcacagggtcaagctcagcagctctcaatggtcctacccctggag
cccccgatgaccccattggcctcttcgtgatgcggccacaggatggcgag
gtgaccgtgggtgagtgtgagctgctgtgcccagcattggggtgggaagg
gggggcagcaggacactccccaagccgggcctgtcgccctgcctttgcag
gtggcagcatcaccttctcagccTgcgt

**RESTRICTION ENZYME**
no information

disease	HCM

Date this novel mutation was originally posted on this website: 2/17/2004

References and comments

Merk, Seidman et al., 2004. (this study)

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Last modified: April 24, 2006