MYL3

This page contains an overview of the genetic variation in the MYL3 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:

MYL3 gene and transcript details

Gene Name
myosin, light chain 3, alkali; ventricular, skeletal, slow

Gene Links
Ensembl: ENSG00000160808 - Locus Reference Genomic: LRG_395

Genomic Location
Chromosome 3 : 46,899,734 - 46,904,880 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (585 bases)	Protein (195 aa)
	ENST00000395869	ENSP00000379210
	LRG_395t1	LRG_395p1
	NM_000258.2
		P08590

Summary of MYL3 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.00884	0.00182	0.70%
Truncating	0.00000	0.00004	0.00%
Non-Truncating	0.00884	0.00178	0.71%

Based on an analysis of rare variants (MAF<0.0001) in MYL3 detected in a cohort of 4185 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00182	-0.18%
Truncating	0.00004	0.00%
Non-Truncating	0.00178	-0.18%

Based on an analysis of rare variants (MAF<0.0001) in MYL3 detected in a cohort of 543 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

MYL3 variants in ExAC

Details of the protein-altering MYL3 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	74	0.00098
Truncating	2	0.00002
Missense	60	0.00087
Inframe	2	0.00002
Splice Site	10	0.00007

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