MYL2 mutation Lys104Glu

The Lys104Glu mutation of human cardiac Regulatory Myosin Light Chain

(other names: K104E, K102E)

sequence
restriction enzyme
clinical information
references and comments

**SEQUENCE**
exon	5
nucleotide change	A>G
nucleotide pos. in gene	7392
UCSC Golden Path position	109813813
amino acid change	Lys>Glu
charge change	-2
codon change
transcript change	missense
translation change	substitution, non-conservative

mutated amplimer sequence:
agccttgctctggccccttcatctctgggggaacttgggccctgctgcct
ggggtgccagtggttcccagccacccccagtacatgtaagccctgtgttc
cgtttcaggagcggaccctgaggaaaccattctcaacgcattcGaagtgt
ttgaccctgaaggcaaaggggtgctgaaggctgattagtgagtggggtct
gtgggggaggaagggggttccctgcttgccccctgtcccccctacacaca
cacaactgacaccaacacctgctttcctttctctgcagcgttcgggaaat
gctgaccacgcaggcggagaggttttccaaggaggaggtaatggggtcct
tcaagcactccctctaacccagctcctgggttctccttctggggggctcc
gtctcccctctcgtctaaagcacccctgaccccaca

**RESTRICTION ENZYME**
no information

disease	HCM

References and comments

Andersen et al., 1999. (abstract)
Andersen PS, Havndrup O, Bundgaard H, Moolman-Smook JC, Larsen LA, Mogensen J, Brink PA, Borglum AD, Corfield VA, Kjeldsen K, Vuust J, Christiansen M.
Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations.
J Med Genet. 2001 Dec;38(12):E43. (PubMed:11748309)
- compound heterozygote, with MYL2:IVS6-1G>C
- classic LVH. 4 patients asymptomatic unless IVS6-1G>C also present.

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Last modified: April 24, 2006