P70404 · IDHG1_MOUSE
- ProteinIsocitrate dehydrogenase [NAD] subunit gamma 1, mitochondrial
- GeneIdh3g
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids393 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3410563201 | 34 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000086.8:g.72826304C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72826304C>G Locations: - p.Ala34Pro (Ensembl:ENSMUST00000052761) - c.100G>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389560591 | 43 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000086.8:g.72825910T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825910T>G Locations: - p.Gln43His (Ensembl:ENSMUST00000052761) - c.129A>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389572575 | 48 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000086.8:g.72825702G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825702G>T Locations: - p.Ser48Tyr (Ensembl:ENSMUST00000052761) - c.143C>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3409866764 | 58 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72825673T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825673T>G Locations: - p.Thr58Pro (Ensembl:ENSMUST00000052761) - c.172A>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389567581 | 78 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.72825613T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825613T>C Locations: - p.Arg78Gly (Ensembl:ENSMUST00000052761) - c.232A>G (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389579813 | 87 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72825368T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825368T>A Locations: - p.Glu87Asp (Ensembl:ENSMUST00000052761) - c.261A>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389543250 | 88 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000086.8:g.72825367C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825367C>T Locations: - p.Glu88Lys (Ensembl:ENSMUST00000052761) - c.262G>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389520933 | 89 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.72825364C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825364C>G Locations: - p.Val89Leu (Ensembl:ENSMUST00000052761) - c.265G>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3410674615 | 112 | V>G | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.72825294_72825295insTCCGCCGGAACCGTGTGGCCCTGAAGGGTGAGCTCAGGGGC Codon: GTG/GGCCCCTGAGCTCACCCTTCAGGGCCACACGGTTCCGGCGGATG Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.72825294_72825295insTCCGCCGGAACCGTGTGGCCCTGAAGGGTGAGCTCAGGGGC Locations: - p.Val112GlyfsTer3 (Ensembl:ENSMUST00000052761) - c.334_335insGCCCCTGAGCTCACCCTTCAGGGCCACACGGTTCCGGCGGA (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389531290 | 176 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72824517C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72824517C>G Locations: - p.Ser176Thr (Ensembl:ENSMUST00000052761) - c.527G>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389560610 | 180 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72824504C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72824504C>A Locations: - p.Glu180Asp (Ensembl:ENSMUST00000052761) - c.540G>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3410718055 | 196 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000086.8:g.72824266C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72824266C>A Locations: - p.Lys196Asn (Ensembl:ENSMUST00000052761) - c.588G>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389557848 | 216 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72824207A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72824207A>T Locations: - p.Val216Glu (Ensembl:ENSMUST00000052761) - c.647T>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389531220 | 234 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000086.8:g.72823895T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823895T>C Locations: - p.Gln234Arg (Ensembl:ENSMUST00000052761) - c.701A>G (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389567515 | 255 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72823832T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823832T>A Locations: - p.Asn255Ile (Ensembl:ENSMUST00000052761) - c.764A>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389576501 | 279 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72823671A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823671A>T Locations: - p.Ile279Asn (Ensembl:ENSMUST00000052761) - c.836T>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3410563211 | 298 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72823614T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823614T>G Locations: - p.Asn298Thr (Ensembl:ENSMUST00000052761) - c.893A>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389564117 | 315 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72823294T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823294T>G Locations: - p.Lys315Asn (Ensembl:ENSMUST00000052761) - c.945A>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389567570 | 318 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000086.8:g.72823286G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823286G>A Locations: - p.Ala318Val (Ensembl:ENSMUST00000052761) - c.953C>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389557867 | 323 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000086.8:g.72823272C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823272C>T Locations: - p.Ala323Thr (Ensembl:ENSMUST00000052761) - c.967G>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389567552 | 326 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000086.8:g.72823262G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823262G>A Locations: - p.Thr326Ile (Ensembl:ENSMUST00000052761) - c.977C>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3409866722 | 332 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.72823245T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823245T>A Locations: - p.Ser332Cys (Ensembl:ENSMUST00000052761) - c.994A>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3410563147 | 353 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000086.8:g.72823093T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823093T>A Locations: - p.Leu353Phe (Ensembl:ENSMUST00000052761) - c.1059A>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389572525 | 354 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000086.8:g.72823092C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823092C>T Locations: - p.Ala354Thr (Ensembl:ENSMUST00000052761) - c.1060G>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389556486 | 357 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000086.8:g.72823083C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72823083C>G Locations: - p.Asp357His (Ensembl:ENSMUST00000052761) - c.1069G>C (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389575651 | 381 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000086.8:g.72822716C>A Codon: CGT/CTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822716C>A Locations: - p.Arg381Leu (Ensembl:ENSMUST00000052761) - c.1142G>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3389575713 | 388 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.72822695C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822695C>T Locations: - p.Gly388Glu (Ensembl:ENSMUST00000052761) - c.1163G>A (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: | |||||||
rs3409408825 | 392 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.72822683T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.72822683T>A Locations: - p.Glu392Val (Ensembl:ENSMUST00000052761) - c.1175A>T (Ensembl:ENSMUST00000052761) Source type: large scale study Cross-references: |