This page is now frozen. No new data will be added. No further corrections will be made.

The PLOD1 mutation data have been added to a new database.

LOVD PLOD1 homepage

General information
Gene name procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Gene symbol PLOD1
Chromosome Location 1p36.22
Database location Dalgleish Laboratory, Department of Genetics, University of Leicester, UK
Curator Wei Kheng Teh and Raymond Dalgleish
PubMed references View all (unique) PubMed references in the PLOD1 database
Date of creation November 08, 2010
Last update September 22, 2020
Version PLOD1 200922
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_008159.1
Transcript refseq ID NM_000302.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 56
Total number of individuals with variant(s) 86
Total number of variants reported 156
Subscribe to updates of this gene
NOTE The work leading to the establishment of this LSDB was supported by the European Commission's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the PLOD1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 PLOD1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PLOD1 database
Variants with no known pathogenicity Listing of all PLOD1 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

Links to other resources
HGNC 9081
Entrez Gene 5351
OMIM - Gene 153454
OMIM - Disease #1 Ehlers-Danlos syndrome, type VI
OMIM - Disease #2 Nevo syndrome
UniProtKB (SwissProt/TrEMBL) Q02809
GeneCards PLOD1
GeneTests PLOD1

Copyright & disclaimer
All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database.

Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share submitted data with external parties for research purposes or for sharing with other databases.