MYH7 mutation Ile443Thr

The Ile443Thr mutation of human beta-cardiac Myosin Heavy Chain

(other names: I443T)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	14
nucleotide change	T>C
nucleotide pos. in gene	10408
UCSC Golden Path position	22968083
amino acid change	Ile>Thr
charge change	0
codon change	ATC>ACC
transcript change	missense
translation change

mutated amplimer sequence:
caagttcactcttcccaacaaccctgctcaatatgggtctctcctccacc
ttgcaggtgatatatgccactggggcactggccaaggcagtgtatgagag
gatgttcaactggatggtgacgcgcaCcaatgccaccctggagaccaagc
agccacgccagtacttcataggagtcctggacatcgctggcttcgagatc
ttcgatgtgagttgggacccctgggagtgggagaacaatcactcactcgc
tcccacat

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M.
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. (PubMed:12707239)

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Last modified: April 24, 2006