MYL3 |
- 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)