MYH7 mutation Ala430Glu

The Ala430Glu mutation of human beta-cardiac Myosin Heavy Chain

(other names: A430E)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	14
nucleotide change	A>C
nucleotide pos. in gene	10369
UCSC Golden Path position	22968122
amino acid change	Ala>Glu
charge change	-1
codon change	GCA>GAA
transcript change	missense
translation change	substitution

mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggccaaggCagtgtatgagag
gatgttcaactggatggtgacgcgcatcaatgccaccctggagaccaagc
agccacgccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Morner S, Richard P, Kazzam E, Hellman U, Hainque B, Schwartz K, Waldenstrom A.
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
J Mol Cell Cardiol 2003 Jul;35(7):841-9. (PubMed:12818575)

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Last modified: April 24, 2006