MYLK2

This page contains an overview of the genetic variation in the MYLK2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

MYLK2 gene and transcript details

Gene Name
myosin light chain kinase 2

Gene Links
Ensembl: ENSG00000101306 - Locus Reference Genomic: LRG_392

Genomic Location
Chromosome 20 : 30,407,384 - 30,421,600 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1788 bases)Protein (596 aa)
ENST00000375994 ENSP00000365162
LRG_392t1LRG_392p1
NM_033118.3
Q9H1R3

Summary of MYLK2 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.016530.007820.87%
Truncating0.000000.00014-0.01%
Non-Truncating0.016530.007680.89%
Based on an analysis of rare variants (MAF<0.0001) in MYLK2 detected in a cohort of 121 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of MYLK2 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).


MYLK2 variants in ExAC

Details of the protein-altering MYLK2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants2540.00424
Truncating80.00007
Missense2200.00382
Inframe10.00002
Splice Site250.00032

Rare variants are defined as having a mean allelic frequency of less than 0.0001.