LOVD AARS homepage

General information
Gene name alanyl-tRNA synthetase
Gene symbol AARS
Chromosome Location 16q22
Database location http://grenada.lumc.nl/LOVD2/shared1
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the AARS database
Date of creation July 21, 2011
Last update July 27, 2011
Version AARS110727
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_023191.1
Transcript refseq ID NM_001605.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 3
Total number of variants reported 3
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the AARS 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 AARS database, without patient data
Complete sequence variant listing Listing of all sequence variants in the AARS database
Variants with no known pathogenicity Listing of all AARS 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 16
OMIM - Gene 601065
OMIM - Disease Charcot-Marie-Tooth disease type 2N, autosomal dominant (CMT-2N)
UniProtKB (SwissProt/TrEMBL) P49588
GeneCards AARS
GeneTests AARS
External link Orphanet

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 © 2016. 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.

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