Q9WU56 · PUS1_MOUSE
- ProteinPseudouridylate synthase 1 homolog
- GenePus1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids423 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388779941 | 57 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.110927675C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.110927675C>A Locations: - p.Glu57Ter (Ensembl:ENSMUST00000031483) - c.169G>T (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388779314 | 112 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.110925575A>T Codon: TTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110925575A>T Locations: - p.Leu112Met (Ensembl:ENSMUST00000031483) - c.334T>A (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388779532 | 131 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.110925517C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110925517C>A Locations: - p.Arg131Met (Ensembl:ENSMUST00000031483) - c.392G>T (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388772592 | 163 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.110923446A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110923446A>T Locations: - p.Leu163Gln (Ensembl:ENSMUST00000031483) - c.488T>A (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388776882 | 168 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.110923431C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110923431C>A Locations: - p.Ser168Ile (Ensembl:ENSMUST00000031483) - c.503G>T (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3543703404 | 186 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.110923056A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110923056A>C Locations: - p.Phe186Val (Ensembl:ENSMUST00000031483) - c.556T>G (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388770779 | 272 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.110922801_110922802insCACACTACCTCAACCATCACTC Codon: -/TGATGGTTGAGGTAGTGTGGAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.110922801_110922802insCACACTACCTCAACCATCACTC Locations: - p.Gly272Ter (Ensembl:ENSMUST00000031483) - c.813_814insTGATGGTTGAGGTAGTGTGGAG (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388779335 | 274 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.110922791T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110922791T>C Locations: - p.Glu274Gly (Ensembl:ENSMUST00000031483) - c.821A>G (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3507794424 | 333 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000071.7:g.110922613C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110922613C>G Locations: - p.Arg333Ser (Ensembl:ENSMUST00000031483) - c.999G>C (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388767622 | 358 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000071.7:g.110922540C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110922540C>T Locations: - p.Glu358Lys (Ensembl:ENSMUST00000031483) - c.1072G>A (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3388779965 | 385 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.110922459G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.110922459G>A Locations: - p.Gln385Ter (Ensembl:ENSMUST00000031483) - c.1153C>T (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: | |||||||
rs3543713863 | 406 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000071.7:g.110922395C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.110922395C>A Locations: - p.Gly406Val (Ensembl:ENSMUST00000031483) - c.1217G>T (Ensembl:ENSMUST00000031483) Source type: large scale study Cross-references: |