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MYLK

From SNPedia

is agene
is mentioned by
Full namemyosin light chain kinase
EntrezGene4638
PheGenI4638
VariationViewer4638
ClinVarMYLK
GeneCardsMYLK
dbSNP4638
DiseasesMYLK
SADR4638
HugeNav4638
wikipediaMYLK
googleMYLK
gopubmedMYLK
EVSMYLK
HEFalMpMYLK
MyGene2MYLK
23andMeMYLK
UniProtQ15746
EnsemblENSG00000065534
OMIM600922
# SNPs12
 Max MagnitudeChromosome positionSummary
rs10605025310123,647,350
rs11717814123,689,704
rs1509368400123,707,995
rs16834817123,859,186
rs22228230123,885,940
rs3879067815.5123,620,300
rs3879067825.5123,647,405
rs403050123,692,742
rs7681340550123,708,719
rs7792124600123,725,955
rs820336123,696,934
rs9361700123,703,970

The MYLK gene on chromosome 3 encodes the myosin light chain kinase protein. A small number of (rare) mutations in the MYLK gene are considered pathogenic for familial thoracic aortic aneurysm and dissection, which in OMIM is classified as aortic aneurysm, familial thoracic (type) 7.

In 2010, MYLK gene mutations rs387906782 (p.R1480*) and rs387906781 (p.S1759P) were identified as co-segregating with the disease in two families with FTAAD. All affected family members presented with acute aortic dissections at various ages. In 2016, exome sequencing of a multigenerational Swedish family revealed a disease-causing 2-bp deletion, c.3272_3273del, p.Ser1091*, which at this time lacks a dbSNP rs-id.[PMID 27586135OA-icon.png]