PUS1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PUS1
Gene name pseudouridylate synthase 1
Chromosome 12
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_001002019.2, NM_001002020.2, NM_025215.5
Associated with diseases MLASA1
Citation reference(s) -
Curators (0) -
Total number of public variants reported 34
Unique public DNA variants reported 30
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer
Links to other resources
HGNC 15508
Entrez Gene 80324
PubMed articles PUS1
OMIM - Gene 608109
OMIM - Diseases MLASA1 (Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3))
HGMD PUS1
GeneCards PUS1
GeneTests PUS1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000269 12 transcript variant 3 NM_001002020.2 NP_001002020.1 34
00000270 12 transcript variant 2 NM_001002019.2 NP_001002019.1 34
00000271 12 transcript variant 1 NM_025215.5 NP_079491.2 34


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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