• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MYL3 (HGNC:7584) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin light chain 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CMH8, VLC1, MLC1V, MLC1SB
%HI
48.58(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.09(Read more about gnomAD pLI score)
LOEUF
0.9(Read more about gnomAD LOEUF score)
Cytoband
3p21.31
Genomic Coordinates
GRCh37/hg19: chr3:46899362-46904934 NCBI Ensembl UCSC
GRCh38/hg38: chr3:46857872-46882182 NCBI Ensembl UCSC
MANE Select Transcript
NM_000258.3 ENST00000292327.6 (Read more about MANE Select)
Function
Regulatory light chain of myosin. Does not bind calcium. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4377
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/18/2015

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There is no evidence at present to show that MYL3 variants have a loss of function effect. MYL3 is associated with dominant hypertrophic cardiomyopathy. Described pathogenic missense variants in the MYL3 gene cause the disorder by altering its normal physiologic function (e.g: impairing essential interaction with other components of the sarcomere) (PMID: 22131351 ). There is one report of a case with recessive inheritance due to autozygosity. The variant reported in recessive HCM was a homozygous missense change (p.Glu143Lys). Functional studies were not performed (PMID: 12021217, 21823217). ClinVar classifies the Glu143Lys variant as "uncertain" and reports it found in individuals with pathogenic changes in other genes. One report describes a splice site alteration predicted to cause exon skipping and no parental studies were done (PMID: 19035361). One frameshift variant in the middle of the gene has been described but it is unclear if it was causative of HCM or not (PMID: 25132132), and there are two instances of frameshift and one of an early canonical splice site change in ExAc (all at very low freq). There are three transcripts for MYL3 with different reading frames at the frameshift locations. The Database of Genomic Variants (DGV) lists a number of deletion CNVs including MYL3 and reported by multiple groups.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There is no evidence for triplosensitivity of MYL3 at present.

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)