MYH7 mutation Ala326Pro

The Ala326Pro mutation of human beta-cardiac Myosin Heavy Chain

(other names: A326P)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	11
nucleotide change	G>C
nucleotide pos. in exon	81
nucleotide pos. in gene	8868
UCSC Golden Path position	22969632
amino acid change	AlaÝPro
charge change
codon change	GCT>CCT
transcript change	missense
translation change	substitution

mutated amplimer sequence:
ctgcttcctcaggccatgtgctgtggcgagcagcctccatgagagccggg
ggcttgtgtcccaccctaaccatgttttttcccctagacatgctgctgat
caccaacaacccctacgattatgcattcatctcccaaggagagaccaccg
tggcctccattgatgacCctgaggagctcatggccactgatgtgagtgtg
tgaggacccagccagggggtgggaggattggcagtgaggggcaaacaggg
gtccaaaagcagagctaagactctggccattggt

**RESTRICTION ENZYME**
restriction enzyme	Hga I site lost
fragment sizes, wild-type strand (bp)	174, 100
fragment sizes, mutant strand (bp)	284

disease	HCM

References and comments

Coviello et al., 1997. (abstract)

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Last modified: April 24, 2006