MYBPC3 mutation Arg35Trp

The Arg35Trp mutation of human cardiac Myosin-Binding Protein C

(other names: R35W)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	3
nucleotide change	C>T
nucleotide pos. in gene	2254
UCSC Golden Path position	47329555
charge change
codon change	CGG>TGG
transcript change	missense
translation change

mutated amplimer sequence:
gtgcacgctccaaccaggggccgctgtagcctccacctggcccttcagtc
tcagcttttagcaagaagccacggtcagtggaagtggccgcaggcagccc
tgccgtgttcgaggccgagacagagTgggcaggagtgaaggtgcgctggc
agcgcggaggcagtgacatcagcgccagcaacaagtacggcctggccaca
gagggcacacggcatacgctgacagtgcgggaagtgggccctgccgacca
gggatcttacgcagtcattgctggctcctccaaggtcaagttcgacctca
aggtcatagaggcaggtaagatcctgatcagccttccctgaggtttgggc
tgctgggggaggggcagcccagcgactctccatccatccagggaacagga
ggtgctttcacactttcttgcctttgctg

**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