MYH7 mutation Val320Met

The Val320Met mutation of human beta-cardiac Myosin Heavy Chain

(other names: V320M)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	11
nucleotide change	G>A
nucleotide pos. in gene	8850
UCSC Golden Path position	22969650
amino acid change	Val>Met
charge change	0
codon change	GTG>ATG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ctgcttcctcaggccatgtgctgtggcgagcagcctccatgagagccggg
ggcttgtgtcccaccctaaccatgttttttcccctagacatgctgctgat
caccaacaacccctacgattatgcattcatctcccaaggagagaccaccA
tggcctccattgatgacgctgaggagctcatggccactgatgtgagtgtg
tgaggacccagccagggggtgggaggattggcagtgaggggcaaacaggg
gtccaaaagcagagctaagactctggccattggt

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Havndrup O, Bundgaard H, Andersen PS, Allan Larsen L, Vuust J, Kjeldsen K, Christiansen M.
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.
Cardiovasc Res 2003 Feb;57(2):347-57. (PubMed:12566107)

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Last modified: April 24, 2006