MYH7 mutation Tyr624Asn

The Tyr624Asn mutation of human beta-cardiac Myosin Heavy Chain

(other names: Y624N)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	16
nucleotide change	T>A
nucleotide pos. in gene	11838
UCSC Golden Path position	22966652
amino acid change	TyrÝAsn
charge change
codon change	TAT>AAT
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ataactgtactcagagctgagcctactaccttaacacccaacatggcacc
tccacgagcaagtatattgaccatagagcagaatccatgtccacctgtgt
gaaggacactcagtgatgctctctcctgcttcctcagcccatgggcatca
tgtccatcctggaagaggagtgcatgttccccaaggccaccgacatgacc
ttcaaggccaagctgtttgacaaccacctgggcaaatccgccaacttcca
gaagccacgcaatatcaaggggaagcctgaagcccacttctccctgatcc
actatgccggcatcgtggactacaacatcattggctggctgcagaagaac
aaggatcctctcaatgagactgtcgtgggcttgtatcagaagtcttccct
caagctgctcagcaccctgtttgccaacAatgctggggctgatgcgcgta
agtagggactgaggctcccggtacagaggagcagggattctgccaaggtt
ctgagccaggtcaattgctacaccccaccacttcaatgtcaggttgtacc
ccaaggtttacagactcagtgggatgga

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Ohsuzu F, Katsushika S, Akanuma M, Nakamura H, Harada H, Satoh M, Hiroi S, Kimura A.
Hypertrophic obstructive cardiomyopathy due to a novel T-to-A transition at codon 624 in the beta-myosin heavy chain (beta-MHC) gene possibly related to the sudden death.
Int J Cardiol 1997 Dec 19;62(3):203-9. (PubMed:9476679)

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Last modified: April 24, 2006