MYH7 mutation Gly10del

The Gly10del mutation of human beta-cardiac Myosin Heavy Chain

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	3
nucleotide change	del GGG
nucleotide pos. in exon	37_39
nucleotide pos. in gene	5748..5750
UCSC Golden Path position	22972754..22972752
amino acid change	del Gly
charge change
codon change
transcript change	inframe deletion
translation change	deletion

mutated amplimer sequence:
tcttgactcttgagcatggtgctaggttttggggctcccactgaagggga
gagcccagggagggaagggaagaatgggcagatgggagggcagccagctt
ctgctcactccaggcacagccatgggagattcggagatggcagtcttTGc
tgccgccccctacctgcgcaagtcagagaaggagcggctagaagcgcaga
ccaggccttttgacctcaagaaggatgtcttcgtgcctgatgacaaacag
gagtttgtcaaggccaagatcgtgtctcgagagggtggcaaagtcactgc
cgagactgagtatggcaaggtgggtgtcaggctgatgtgagagtccaccc
tggccacctgtacacctgggtggacaga

**RESTRICTION ENZYME**
restriction enzyme	BstAP I site gained
fragment sizes, wild-type strand (bp)	381
fragment sizes, mutant strand (bp)	147, 234

disease	HCM

References and comments

Nakajima-Taniguchi C, Matsui H, Eguchi N, Nagata S, Kishimoto T, Yamauchi-Takihara K.
A novel deletion mutation in the beta-myosin heavy chain gene found in Japanese patients with hypertrophic cardiomyopathy.
J Mol Cell Cardiol 1995 Dec;27(12):2607-12. (PubMed:8825881)

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Last modified: April 24, 2006