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:
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_392t1 | LRG_392p1 |
![]() |
NM_033118.3 | |
![]() |
Q9H1R3 |
VarType | DCM Freq | ExAC Freq | Case Excess |
---|---|---|---|
All | 0.01653 | 0.00782 | 0.87% |
Truncating | 0.00000 | 0.00014 | -0.01% |
Non-Truncating | 0.01653 | 0.00768 | 0.89% |
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).
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 Variants | Combined frequency of rare variants | |
---|---|---|
All Variants | 254 | 0.00424 |
Truncating | 8 | 0.00007 |
Missense | 220 | 0.00382 |
Inframe | 1 | 0.00002 |
Splice Site | 25 | 0.00032 |