MYH7 mutation Phe312Cys

The Phe312Cys mutation of human beta-cardiac Myosin Heavy Chain

(other names: F312C)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	11
nucleotide change	T>G
nucleotide pos. in gene	8827
UCSC Golden Path position	22969673
amino acid change	Phe>Cys
charge change	0
codon change	TTC>TGC
transcript change	missense
translation change

mutated amplimer sequence:
ctgcttcctcaggccatgtgctgtggcgagcagcctccatgagagccggg
ggcttgtgtcccaccctaaccatgttttttcccctagacatgctgctgat
caccaacaacccctacgattatgcatGcatctcccaaggagagaccaccg
tggcctccattgatgacgctgaggagctcatggccactgatgtgagtgtg
tgaggacccagccagggggtgggaggattggcagtgaggggcaaacaggg
gtccaaaagcagagctaagactctggccattggt

**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)

citations & disclaimer | contact us

Last modified: April 24, 2006