MYBPC3 mutation Arg470Gln

The Arg470Gln mutation of human cardiac Myosin-Binding Protein C

(other names: R470Q)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	17
nucleotide change	G>A
nucleotide pos. in gene	10771
UCSC Golden Path position	47321005
amino acid change	Arg>Gln
charge change	-1
codon change	CGG>CAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
aacacttcaacggccccttctgttctacagcaagtaagttcccctctgga
tggcttggggtggggggcacagggattatcacggggcgcactgggcccgg
aggggtgtccgcagctttcctgccacttccctgcggcccccacccaggta
catctttgagtccatcggtgccaagcgtaccctgaccatcagccagtgct
cattggcggacgacgcagcctaccagtgcgtggtgggtggcgagaagtgt
agcacggagctctttgtgaaaggtgggcctgggacctgaggatgtgggaa
cctggggaggagatggcctcaggggagccaaccctcatgctcaccctgcc
tggacagagccccctgtgctcatcacgcgccccttggaggaccagctggt
gatggtggggcagcAggtggagtttgagtgtgaagtatcggaggaggggg
c

**RESTRICTION ENZYME**
restriction enzyme	Aci I site lost

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)

citations & disclaimer | contact us

Last modified: April 24, 2006