LOVD RPS19 homepage

General information
Gene name ribosomal protein S19
Gene symbol RPS19
Chromosome Location 19q13.2
Database location www.dbagenes.unito.it
Curator I. Boria and U. Ramenghi
Database reference for citations A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. Boria et al (2008) Hum Mutat 29(11),E263-70
PubMed references View all (unique) PubMed references in the RPS19 database
Date of creation November 12, 2007
Last update May 17, 2018
Version RPS19 180517
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000019.9
Transcript refseq ID NM_001022.3
Total number of unique DNA variants reported 130
Total number of individuals with variant(s) 220
Total number of variants reported 220
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NOTE The RPS19 gene comprises 6 exons and spans 11 Kb. The first exon (372 bp) is included in the 5' UTR region, while the other five (435 bp) encode for a 145 amino acid protein (MW 16 kDa). The predicted size of the whole RPS19 primary transcript, including the polyA stretch, is 872 bp. RPS19 has 3 annotated pseudogenes.
Link to the location of the pathogenic variants in relation to the gene
Link to the location of the pathogenic variants in relation to the protein structure

This database was partially supported by the ENERCA (European Network for Rare and Congenital Anaemias) project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the RPS19 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 RPS19 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RPS19 database
Variants with no known pathogenicity Listing of all RPS19 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
Entrez Gene 6223
OMIM - Gene 603474
OMIM - Disease 105650 (DBA1)
External link dbSNP

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.