Q9CYH2 · PXL2A_MOUSE
- ProteinPeroxiredoxin-like 2A
- GenePrxl2a
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids218 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs45761022 | 31 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000080.7:g.40726052G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40726052G>C Locations: - p.Arg31Gly (Ensembl:ENSMUST00000022317) - c.91C>G (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3389311882 | 45 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000080.7:g.40726009G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40726009G>A Locations: - p.Thr45Ile (Ensembl:ENSMUST00000022317) - c.134C>T (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3389332344 | 69 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.40724425C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40724425C>A Locations: - p.Val69Leu (Ensembl:ENSMUST00000022317) - c.205G>T (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3389335933 | 117 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000080.7:g.40720830A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40720830A>G Locations: - p.Phe117Leu (Ensembl:ENSMUST00000022317) - c.349T>C (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3404998968 | 117-118 | FK>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.40720827_40720829del Codon: TTCAAA/TAA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.40720827_40720829del Locations: - p.Phe117_Lys118delinsTer (Ensembl:ENSMUST00000022317) - c.350_352del (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3404768350 | 123 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40720811A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40720811A>T Locations: - p.Leu123Gln (Ensembl:ENSMUST00000022317) - c.368T>A (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3389302762 | 149 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.40719766A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.40719766A>T Locations: - p.Tyr149Ter (Ensembl:ENSMUST00000022317) - c.447T>A (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3389316453 | 152 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000080.7:g.40719759A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40719759A>T Locations: - p.Phe152Ile (Ensembl:ENSMUST00000022317) - c.454T>A (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3389335926 | 167 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40719714C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40719714C>A Locations: - p.Gly167Cys (Ensembl:ENSMUST00000022317) - c.499G>T (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3403547790 | 204 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.40716528C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40716528C>A Locations: - p.Ala204Ser (Ensembl:ENSMUST00000022317) - c.610G>T (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs51392512 | 210 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000080.7:g.40716509A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40716509A>G Locations: - p.Leu210Pro (Ensembl:ENSMUST00000022317) - c.629T>C (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs3404998989 | 212 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000080.7:g.40716504T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40716504T>G Locations: - p.Thr212Pro (Ensembl:ENSMUST00000022317) - c.634A>C (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: | |||||||
rs264822225 | 214 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000080.7:g.40716498C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40716498C>A Locations: - p.Ala214Ser (Ensembl:ENSMUST00000022317) - c.640G>T (Ensembl:ENSMUST00000022317) Source type: large scale study Cross-references: |