MYH7 mutation Arg143Trp

The Arg143Trp mutation of human beta-cardiac Myosin Heavy Chain

(other names: R143W)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	C>T
nucleotide pos. in gene	6738
UCSC Golden Path position	22971763
amino acid change	Arg>Trp
charge change	-1
codon change	CGG>TGG
transcript change	missense
translation change

mutated amplimer sequence:
atctttctctaactcccaaaatcaccagccctcccccttcgcaactggca
agtcactgctccttttctatccccagacctactcgggcctcttctgtgtc
accgtcaacccttacaagtggctgccggtgtacactcctgaggtggtggc
tgcctacTggggcaagaagaggagcgaggccccgccccacatcttctcca
tctccgacaacgcctatcagtacatgctgacaggtgagaggccctggaag
gtcttcctgaagggaactgggataggccgggagggagagggagaaggaag
ggagaagccccacgagagcatcctgtgcagctcctgacctttcctcccca
ccctctccccacagacagagaaaaccagtccatcctgatcacgtgagt

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Koyanagi T, Harada H, Nishi H, Kawai H, Yokota Y, Koga Y, Toshima H, Kimura A.
Structural and functional aspects of cardiac beta-myosin heavy chain gene mutations in hypertrophic cardiomyopathy.
Circulation, 1996, 94(8):I-110 (abstract)
Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V.
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Clin Genet 2003 Oct;64(4):339-49. (PubMed:12974739)

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Last modified: April 24, 2006