MYH7 mutation Arg453Leu

The Arg453Leu mutation of human beta-cardiac Myosin Heavy Chain

(other names: R453L)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	14
nucleotide change	G>T
nucleotide pos. in gene	10438
UCSC Golden Path position	22968053
amino acid change	Arg>Leu
charge change	-1
codon change	CGC>CTC
transcript change	missense
translation change

mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggccaaggcagtgtatgagag
gatgttcaactggatggtgacgcgcatcaatgccaccctggagaccaagc
agccacTccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Haluza et al., 2000. (on-line)

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Last modified: April 24, 2006