MYH7 mutation Ala385Val

The Ala385Val mutation of human beta-cardiac Myosin Heavy Chain

(other names: A385V)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	13
nucleotide change	C>T
nucleotide pos. in gene	10110
UCSC Golden Path position	22968381
amino acid change	Ala>Val
charge change	0
codon change	GCC>GTC
transcript change	missense
translation change

mutated amplimer sequence:
agtcatctctttaccaactttgctacttgccttttccttccagaggctga
caagtctgTctacctcatggggctgaactcagccgacctgctcaaggggc
tgtgccaccctcgggtgaaagtgggcaatgagtacgtcaccaaggggcag
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