MYH7 mutation Glu499Lys

The Glu499Lys mutation of human beta-cardiac Myosin Heavy Chain

(other names: E499K, Gln499Lys)

sequence
restriction enzyme
protein structure
clinical information
references and comments

**SEQUENCE**
exon	15
nucleotide change	G>A
nucleotide pos. in gene	10859
UCSC Golden Path position	22967632
amino acid change	GluÝLys
charge change
codon change	GAG>AAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
actcacacccactttctgactgctcccacccctcatgccccctgcagttc
aacagctttgagcagctctgcatcaacttcaccaacgagaagctgcagca
gttcttcaaccaccacatgtttgtgctggagcagAaggagtacaagaagg
agggcatcgagtggacattcattgactttggcatggacctgcaggcctgc
attgacctcatcgagaaggtgcctctttggccttaccacctgaattc

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

dbSNP: rs3218715 (Submitter: BRINCOR*)

Found in HCM cohort (South African).

Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA.
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Am J Hum Genet 1999 Nov;65(5):1308-20. (PubMed:10521296)

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Last modified: April 24, 2006