MYH7 mutation Val406Met

The Val406Met mutation of human beta-cardiac Myosin Heavy Chain

(other names: V406M)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	13
nucleotide change	G>A
nucleotide pos. in gene	10172
UCSC Golden Path position	22968319
amino acid change	Val>Met
charge change	0
codon change	GTG>ATG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
agtcatctctttaccaactttgctacttgccttttccttccagaggctga
caagtctgcctacctcatggggctgaactcagccgacctgctcaaggggc
tgtgccaccctcgggtgaaaAtgggcaatgagtacgtcaccaaggggcag
aatgtccagcaggtgggtccatcttcagatgataat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Greber-Platzer S, Marx M, Fleischmann C, Suppan C, Dobner M, Wimmer M.
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
J Mol Cell Cardiol 2001 Jan;33(1):141-8. (PubMed:11133230)

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Last modified: April 24, 2006