MYH7 mutation Lys351Glu

The Lys351Glu mutation of human beta-cardiac Myosin Heavy Chain

(other names: K351E)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	12
nucleotide change	A>G
nucleotide pos. in gene	9589
UCSC Golden Path position	22968911
amino acid change	Lys>Glu
charge change	-2
codon change	AAG>GAG
transcript change	missense
translation change

mutated amplimer sequence:
cacagggattaaggagacaagttttctctccaacttacaagggatctcac
ttacccatcatacttctttttctggggtccgccaatatggggcctcccta
cagaacgcttttgatgtgctgggcttcacttcagaggagaaaaactccat
gtatGagctgacaggcgccatcatgcactttggaaacatgaagttcaagc
tgaagcagcgggaggagcaggcggagccagacggcactgaaggtgggagg
caggattcttggggcagctgtaa

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Sawyer et al., 2003. (on-line)
Mohiddin SA, Begley DA, McLam E, Cardoso JP, Winkler JB, Sellers JR, Fananapazir L.
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Genet Test 2003 Spring;7(1):21-7. (PubMed:12820698)

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Last modified: April 24, 2006