MYH7 mutation Leu395fs,Val404fs

The Leu395fs,Val404fs mutation of human beta-cardiac Myosin Heavy Chain

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	13
nucleotide change	complex
nucleotide pos. in gene	10139..10140insG,10168delG
UCSC Golden Path position	22968352..22968323
amino acid change	LLKGLCHPRV>RAQGAVPPSG
charge change
codon change
transcript change	complex
translation change
comment	Insertion and deletion of two nucleotides 29 bp apart shifts then restores reading frame, leading to substitution of 10 consecutive amino acids.

**RESTRICTION ENZYME**
no information

disease	HCM
clinical consequences	de novo

References and comments

Cuda G, Perrotti N, Perticone F, Mattioli PL.
A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy.
Heart 1996 Nov;76(5):451-2. (PubMed:8944596)

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Last modified: April 24, 2006