O70252 · HMOX2_MOUSE
- ProteinHeme oxygenase 2
- GeneHmox2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids315 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs219509579 | 27 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000082.7:g.4580537A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4580537A>C Locations: - p.Thr27Pro (Ensembl:ENSMUST00000004172) - c.79A>C (Ensembl:ENSMUST00000004172) - p.Thr27Pro (Ensembl:ENSMUST00000120232) - c.79A>C (Ensembl:ENSMUST00000120232) - p.Thr27Pro (Ensembl:ENSMUST00000118885) - c.79A>C (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs219509579 | 27 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000082.7:g.4580537A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4580537A>T Locations: - p.Thr27Ser (Ensembl:ENSMUST00000118885) - c.79A>T (Ensembl:ENSMUST00000118885) - p.Thr27Ser (Ensembl:ENSMUST00000120232) - c.79A>T (Ensembl:ENSMUST00000120232) - p.Thr27Ser (Ensembl:ENSMUST00000004172) - c.79A>T (Ensembl:ENSMUST00000004172) Source type: large scale study Cross-references: | |||||||
rs3389395536 | 31 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.4581600G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4581600G>T Locations: - p.Asp31Tyr (Ensembl:ENSMUST00000118885) - c.91G>T (Ensembl:ENSMUST00000118885) - p.Asp31Tyr (Ensembl:ENSMUST00000004172) - c.91G>T (Ensembl:ENSMUST00000004172) - p.Asp31Tyr (Ensembl:ENSMUST00000120232) - c.91G>T (Ensembl:ENSMUST00000120232) Source type: large scale study Cross-references: | |||||||
rs3389358580 | 48 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.4581652A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4581652A>T Locations: - p.Glu48Val (Ensembl:ENSMUST00000120232) - c.143A>T (Ensembl:ENSMUST00000120232) - p.Glu48Val (Ensembl:ENSMUST00000004172) - c.143A>T (Ensembl:ENSMUST00000004172) - p.Glu48Val (Ensembl:ENSMUST00000118885) - c.143A>T (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs3389391139 | 62 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000082.7:g.4581693A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 16q Genomic location: NC_000082.7:g.4581693A>T Locations: - p.Lys62Ter (Ensembl:ENSMUST00000118885) - c.184A>T (Ensembl:ENSMUST00000118885) - p.Lys62Ter (Ensembl:ENSMUST00000120232) - c.184A>T (Ensembl:ENSMUST00000120232) - p.Lys62Ter (Ensembl:ENSMUST00000004172) - c.184A>T (Ensembl:ENSMUST00000004172) Source type: large scale study Cross-references: | |||||||
rs3389399178 | 134 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000082.7:g.4582669T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4582669T>C Locations: - p.Val134Ala (Ensembl:ENSMUST00000118885) - c.401T>C (Ensembl:ENSMUST00000118885) - p.Val134Ala (Ensembl:ENSMUST00000004172) - c.401T>C (Ensembl:ENSMUST00000004172) - p.Val134Ala (Ensembl:ENSMUST00000120232) - c.401T>C (Ensembl:ENSMUST00000120232) Source type: large scale study Cross-references: | |||||||
rs3389367187 | 137 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.4582678T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4582678T>A Locations: - p.Ile137Asn (Ensembl:ENSMUST00000004172) - c.410T>A (Ensembl:ENSMUST00000004172) - p.Ile137Asn (Ensembl:ENSMUST00000120232) - c.410T>A (Ensembl:ENSMUST00000120232) - p.Ile137Asn (Ensembl:ENSMUST00000118885) - c.410T>A (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs3389388427 | 138 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000082.7:g.4582682C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4582682C>A Locations: - p.His138Gln (Ensembl:ENSMUST00000118885) - c.414C>A (Ensembl:ENSMUST00000118885) - p.His138Gln (Ensembl:ENSMUST00000004172) - c.414C>A (Ensembl:ENSMUST00000004172) - p.His138Gln (Ensembl:ENSMUST00000120232) - c.414C>A (Ensembl:ENSMUST00000120232) Source type: large scale study Cross-references: | |||||||
rs3389391126 | 219 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000082.7:g.4582923G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4582923G>A Locations: - p.Val219Met (Ensembl:ENSMUST00000120232) - c.655G>A (Ensembl:ENSMUST00000120232) - p.Val219Met (Ensembl:ENSMUST00000004172) - c.655G>A (Ensembl:ENSMUST00000004172) - p.Val219Met (Ensembl:ENSMUST00000118885) - c.655G>A (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs3389406905 | 235 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000082.7:g.4583636G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583636G>T Locations: - p.Glu235Ter (Ensembl:ENSMUST00000118885) - c.703G>T (Ensembl:ENSMUST00000118885) - p.Glu235Ter (Ensembl:ENSMUST00000120232) - c.703G>T (Ensembl:ENSMUST00000120232) - p.Glu235Ter (Ensembl:ENSMUST00000004172) - c.703G>T (Ensembl:ENSMUST00000004172) Source type: large scale study Cross-references: | |||||||
rs3389348147 | 239 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.4583649C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583649C>A Locations: - p.Ala239Asp (Ensembl:ENSMUST00000004172) - c.716C>A (Ensembl:ENSMUST00000004172) - p.Ala239Asp (Ensembl:ENSMUST00000118885) - c.716C>A (Ensembl:ENSMUST00000118885) - p.Ala239Asp (Ensembl:ENSMUST00000120232) - c.716C>A (Ensembl:ENSMUST00000120232) Source type: large scale study Cross-references: | |||||||
rs50303814 | 261 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000082.7:g.4583714A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583714A>G Locations: - p.Ile261Val (Ensembl:ENSMUST00000004172) - c.781A>G (Ensembl:ENSMUST00000004172) - p.Ile261Val (Ensembl:ENSMUST00000120232) - c.781A>G (Ensembl:ENSMUST00000120232) - p.Ile261Val (Ensembl:ENSMUST00000118885) - c.781A>G (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs3389395085 | 262 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000082.7:g.4583718G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583718G>T Locations: - p.Arg262Leu (Ensembl:ENSMUST00000004172) - c.785G>T (Ensembl:ENSMUST00000004172) - p.Arg262Leu (Ensembl:ENSMUST00000118885) - c.785G>T (Ensembl:ENSMUST00000118885) - p.Arg262Leu (Ensembl:ENSMUST00000120232) - c.785G>T (Ensembl:ENSMUST00000120232) Source type: large scale study Cross-references: | |||||||
rs3389390852 | 265 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.4583726C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583726C>A Locations: - p.Pro265Thr (Ensembl:ENSMUST00000120232) - c.793C>A (Ensembl:ENSMUST00000120232) - p.Pro265Thr (Ensembl:ENSMUST00000004172) - c.793C>A (Ensembl:ENSMUST00000004172) - p.Pro265Thr (Ensembl:ENSMUST00000118885) - c.793C>A (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs3389313855 | 266 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000082.7:g.4583730T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583730T>C Locations: - p.Phe266Ser (Ensembl:ENSMUST00000004172) - c.797T>C (Ensembl:ENSMUST00000004172) - p.Phe266Ser (Ensembl:ENSMUST00000120232) - c.797T>C (Ensembl:ENSMUST00000120232) - p.Phe266Ser (Ensembl:ENSMUST00000118885) - c.797T>C (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs3389395099 | 268 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000082.7:g.4583736C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583736C>T Locations: - p.Ala268Val (Ensembl:ENSMUST00000118885) - c.803C>T (Ensembl:ENSMUST00000118885) - p.Ala268Val (Ensembl:ENSMUST00000120232) - c.803C>T (Ensembl:ENSMUST00000120232) - p.Ala268Val (Ensembl:ENSMUST00000004172) - c.803C>T (Ensembl:ENSMUST00000004172) Source type: large scale study Cross-references: | |||||||
rs3389398085 | 274 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000082.7:g.4583842G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583842G>A Locations: - p.Gly274Asp (Ensembl:ENSMUST00000120232) - c.821G>A (Ensembl:ENSMUST00000120232) - p.Gly274Asp (Ensembl:ENSMUST00000118885) - c.821G>A (Ensembl:ENSMUST00000118885) - p.Gly274Asp (Ensembl:ENSMUST00000004172) - c.821G>A (Ensembl:ENSMUST00000004172) Source type: large scale study Cross-references: | |||||||
rs3389358644 | 294 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.44) Somatic: No Accession: NC_000082.7:g.4583901A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583901A>G Locations: - p.Ser294Gly (Ensembl:ENSMUST00000118885) - c.880A>G (Ensembl:ENSMUST00000118885) - p.Ser294Gly (Ensembl:ENSMUST00000120232) - c.880A>G (Ensembl:ENSMUST00000120232) - p.Ser294Gly (Ensembl:ENSMUST00000004172) - c.880A>G (Ensembl:ENSMUST00000004172) Source type: large scale study Cross-references: | |||||||
rs3389377193 | 303 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000082.7:g.4583928G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583928G>C Locations: - p.Val303Leu (Ensembl:ENSMUST00000120232) - c.907G>C (Ensembl:ENSMUST00000120232) - p.Val303Leu (Ensembl:ENSMUST00000004172) - c.907G>C (Ensembl:ENSMUST00000004172) - p.Val303Leu (Ensembl:ENSMUST00000118885) - c.907G>C (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: | |||||||
rs261577439 | 309 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.49) Somatic: No Accession: NC_000082.7:g.4583946C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.4583946C>T Locations: - p.Leu309Phe (Ensembl:ENSMUST00000120232) - c.925C>T (Ensembl:ENSMUST00000120232) - p.Leu309Phe (Ensembl:ENSMUST00000004172) - c.925C>T (Ensembl:ENSMUST00000004172) - p.Leu309Phe (Ensembl:ENSMUST00000118885) - c.925C>T (Ensembl:ENSMUST00000118885) Source type: large scale study Cross-references: |