MYH7 mutation Lys450Glu

The Lys450Glu mutation of human beta-cardiac Myosin Heavy Chain

(other names: K450Q)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	14
nucleotide change	A>G
nucleotide pos. in exon	91
nucleotide pos. in gene	10428
UCSC Golden Path position	22968063
amino acid change	LysÝGly
charge change
codon change	AAG>GAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggccaaggcagtgtatgagag
gatgttcaactggatggtgacgcgcatcaatgccaccctggagaccGagc
agccacgccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Vigano M.
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
Heart 1998 Dec;80(6):548-58. (PubMed:10065021)
- K450E found along with T9957C of mitochondrial COX III gene.

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Last modified: April 24, 2006