MYH7 mutation Leu517Met

The Leu517Met mutation of human beta-cardiac Myosin Heavy Chain

(other names: L517M)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	15
nucleotide change	C>A
nucleotide pos. in gene	10913
UCSC Golden Path position	22967578
amino acid change	Leu>Met
charge change	0
codon change	CTG>ATG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcaggaggagtacaagaagg
agggcatcgagtggacattcattgactttggcatggacAtgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G.
Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Biochem Biophys Res Commun 2003 Sep 19;309(2):391-8. (PubMed:12951062)
- HCM progresses to "burnt-out" DCM.

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Last modified: April 24, 2006