LOVD MYL3 homepage

General information
Gene name myosin, light chain 3, alkali; ventricular, skeletal, slow
Gene symbol MYL3
Chromosome Location 3p
Database location MingQi_Lab
Curator Ming Qi, PhD, FACMG and Peikuan Cong
Database reference for citations Pan M et al, 2011 Zhang T et al, 2010
PubMed references View all (unique) PubMed references in the MYL3 database
Date of creation May 01, 2013
Last update May 17, 2013
Version MYL3 130517
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007555.1
Transcript refseq ID NM_000258.2
Total number of unique DNA variants reported 16
Total number of individuals with variant(s) 15
Total number of variants reported 18
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NOTE MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
Also known as: CMH8; VLC1; MLC1V; MLC1SB

Graphical displays and utilities
Summary tables Summary of all sequence variants in the MYL3 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MYL3 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MYL3 database
Variants with no known pathogenicity Listing of all MYL3 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.genomed.org/lovd2/home.php?select_db=MYL3
HGNC 7584
Entrez Gene 4634
OMIM - Gene 160790
OMIM - Disease familial hypertrophic cardiomyopathy type 8 (CMH8)
UniProtKB (SwissProt/TrEMBL) P08590
GeneCards MYL3
GeneTests MYL3
External link Leiden Muscular Dystrophy pages

Copyright & disclaimer
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