RPS19 homepage - Diamond-Blackfan Anemia - Leiden Open Variation Database

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
First time submitters	Register here
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
Subscribe to updates of this gene
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)
HGMD	RPS19
External link	dbSNP

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Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)