MYH7 mutation Val404Met

The Val404Met mutation of human beta-cardiac Myosin Heavy Chain

(other names: V404M)

sequence
restriction enzyme
protein structure
clinical information
references and comments

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

mutated amplimer sequence:
agtcatctctttaccaactttgctacttgccttttccttccagaggctga
caagtctgcctacctcatggggctgaactcagccgacctgctcaaggggc
tgtgccaccctcggAtgaaagtgggcaatgagtacgtcaccaaggggcag
aatgtccagcaggtgggtccatcttcagatgataat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
J Am Coll Cardiol 2004 Aug 4;44(3):602-10. (PubMed:15358028)

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Last modified: April 24, 2006