MYL3 mutation Glu143Lys

The Glu143Lys mutation of human cardiac Essential Myosin Light Chain

(other names: E143K)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	4
nucleotide change	G>A
nucleotide pos. in gene	4913
UCSC Golden Path position	46876023
amino acid change	Glu>Lys
charge change	+2
codon change	GAG>AAG
transcript change	missense
translation change	substitution

mutated amplimer sequence:
aaagtgcctcgcgatggtagtttgcttttaaatggcaaactggtgtagac
tgctgtgagaactggtgtagactgttgtagaactgtgtgagaggtgggga
tagctcctcattatcaggcatgggggaggggtgtgcccaccccagcctta
gaccctggaacctgggaccatttctctgcagagctcaataccaagatgat
ggactttgaaactttcctgcctatgctccagcacatttccaagaacaagg
acacaggcacctatgaggacttcgtggaggggctgcgggtcttcgacaag
Aagggcaatggcactgtcatgggtgctgagcttcgccacgtgctggccac
gctgggtgagggcagcctcctcccctaccccaactccttccagggacatc
ctgggagaaaccactctgttgccccccaggcctgtgacccattggtgaaa
tggagagagttacataattagggagcctcaatggcagac

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Olson TM, Karst ML, Whitby FG, Driscoll DJ.
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
Circulation 2002 May 21;105(20):2337-40. (PubMed:12021217)

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Last modified: April 24, 2006