MYH7 mutation Val404Leu

The Val404Leu mutation of human beta-cardiac Myosin Heavy Chain

(other names: V404L)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	13
nucleotide change	G>C
nucleotide pos. in gene	10166
UCSC Golden Path position	22968325
amino acid change	Val>Leu
charge change	0
codon change	GTG>CTG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
agtcatctctttaccaactttgctacttgccttttccttccagaggctga
caagtctgcctacctcatggggctgaactcagccgacctgctcaaggggc
tgtgccaccctcggCtgaaagtgggcaatgagtacgtcaccaaggggcag
aatgtccagcaggtgggtccatcttcagatgataat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ.
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
Heart 2003 Oct;89(10):1179-85. (PubMed:12975413)

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Last modified: April 24, 2006