LOVD ALAS2 homepage

General information
Gene name aminolevulinate, delta-, synthase 2
Gene symbol ALAS2
Chromosome Location Xp11.21
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
Database reference for citations PMID1577484
PubMed references View all (unique) PubMed references in the ALAS2 database
Date of creation April 29, 2010
Last update January 05, 2013
Version ALAS2 130105
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_008983.1
Transcript refseq ID NM_000032.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 13
Total number of individuals with variant(s) 16
Total number of variants reported 16
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the ALAS2 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 ALAS2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ALAS2 database
Variants with no known pathogenicity Listing of all ALAS2 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 397
Entrez Gene 212
OMIM - Gene 301300
UniProtKB (SwissProt/TrEMBL) P22557
GeneCards ALAS2
GeneTests ALAS2
External link Orphanet