LOVD RPS24 homepage

General information
Gene name ribosomal protein S24
Gene symbol RPS24
Chromosome Location 10q22-q23
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 RPS24 database
Date of creation November 21, 2007
Last update November 19, 2010
Version RPS24 101119
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000010.10
Transcript refseq ID NM_033022.3
Total number of unique DNA variants reported 6
Total number of individuals with variant(s) 12
Total number of variants reported 12
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NOTE The RPS24 gene comprises 6 exons and spans 8 kb. Its three isoforms are expressed as slpice variants, S24a or variant 1 (615 bp), S24c or variant 2 (593 bp) and S24b or variant 3 (633 bp) encoding proteins of 130, 133 and 131 amino acids respectively. RPS24 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 RPS24 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 RPS24 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RPS24 database
Variants with no known pathogenicity Listing of all RPS24 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 6229
OMIM - Gene 602412
OMIM - Disease 610629 (DBA3)
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.