G3X977 · G3X977_MOUSE
- ProteinInter-alpha-trypsin inhibitor heavy chain H2
- GeneItih2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids950 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs6264395 | 45 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000068.8:g.10134066A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10134066A>G Locations: - p.Phe45Leu (Ensembl:ENSMUST00000042290) - c.133T>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388527968 | 128 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10128305A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10128305A>G Locations: - p.Phe128Ser (Ensembl:ENSMUST00000042290) - c.383T>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3540117746 | 151 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.10128236G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10128236G>A Locations: - p.Thr151Met (Ensembl:ENSMUST00000042290) - c.452C>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388525623 | 190 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000068.8:g.10124338C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10124338C>A Locations: - p.Lys190Asn (Ensembl:ENSMUST00000042290) - c.570G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388525696 | 208 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000068.8:g.10124285T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10124285T>A Locations: - p.His208Leu (Ensembl:ENSMUST00000042290) - c.623A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs27147059 | 216 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.10122240G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10122240G>C Locations: - p.Ile216Met (Ensembl:ENSMUST00000042290) - c.648C>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388530538 | 247 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10121542G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10121542G>T Locations: - p.Ala247Glu (Ensembl:ENSMUST00000042290) - c.740C>A (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388529719 | 254 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10121521G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10121521G>A Locations: - p.Thr254Ile (Ensembl:ENSMUST00000042290) - c.761C>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388526874 | 269 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000068.8:g.10121477C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10121477C>A Locations: - p.Val269Leu (Ensembl:ENSMUST00000042290) - c.805G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388528816 | 281 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10121440C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10121440C>A Locations: - p.Arg281Ile (Ensembl:ENSMUST00000042290) - c.842G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388529670 | 285 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.10121428G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10121428G>A Locations: - p.Ala285Val (Ensembl:ENSMUST00000042290) - c.854C>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388532035 | 322 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.10120059C>A Codon: TGG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10120059C>A Locations: - p.Trp322Leu (Ensembl:ENSMUST00000042290) - c.965G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388529723 | 324 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000068.8:g.10120054T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10120054T>A Locations: - p.Ile324Phe (Ensembl:ENSMUST00000042290) - c.970A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388528849 | 325 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10120050T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10120050T>G Locations: - p.Lys325Thr (Ensembl:ENSMUST00000042290) - c.974A>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388532059 | 329 | T>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.10115374_10115375insACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGT Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.10115374_10115375insACCTCAACCATCACTCA Locations: - p.Thr329Ter (Ensembl:ENSMUST00000042290) - c.985-1_985insTGAGTGATGGTTGAGGT (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388523552 | 329 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10115373G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10115373G>C Locations: - p.Thr329Ser (Ensembl:ENSMUST00000042290) - c.986C>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388526027 | 332 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10115365C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10115365C>T Locations: - p.Ala332Thr (Ensembl:ENSMUST00000042290) - c.994G>A (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388525671 | 339 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10115343T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10115343T>A Locations: - p.Asp339Val (Ensembl:ENSMUST00000042290) - c.1016A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388526069 | 399 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10114376A>T Codon: TTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10114376A>T Locations: - p.Leu399Met (Ensembl:ENSMUST00000042290) - c.1195T>A (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388528841 | 461 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10111543A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10111543A>C Locations: - p.Phe461Cys (Ensembl:ENSMUST00000042290) - c.1382T>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388524824 | 482 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000068.8:g.10111481T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10111481T>A Locations: - p.Thr482Ser (Ensembl:ENSMUST00000042290) - c.1444A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388524754 | 491 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10110607T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10110607T>A Locations: - p.Asn491Tyr (Ensembl:ENSMUST00000042290) - c.1471A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3413100687 | 511 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.10110547T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10110547T>C Locations: - p.Thr511Ala (Ensembl:ENSMUST00000042290) - c.1531A>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388523543 | 563 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000068.8:g.10110052T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10110052T>C Locations: - p.Asp563Gly (Ensembl:ENSMUST00000042290) - c.1688A>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388529759 | 616 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10107706G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10107706G>T Locations: - p.Ser616Tyr (Ensembl:ENSMUST00000042290) - c.1847C>A (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3413105161 | 623 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.10107685G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10107685G>C Locations: - p.Thr623Ser (Ensembl:ENSMUST00000042290) - c.1868C>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388527978 | 626 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10107676G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10107676G>T Locations: - p.Thr626Asn (Ensembl:ENSMUST00000042290) - c.1877C>A (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388532002 | 657 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000068.8:g.10107011T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10107011T>A Locations: - p.Tyr657Phe (Ensembl:ENSMUST00000042290) - c.1970A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388525589 | 669 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.10106974C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10106974C>A Locations: - p.Trp669Cys (Ensembl:ENSMUST00000042290) - c.2007G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388526795 | 673 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000068.8:g.10106964A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10106964A>G Locations: - p.Ser673Pro (Ensembl:ENSMUST00000042290) - c.2017T>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3391126717 | 706 | I>M | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.10103357_10103358insCCCCCACTTCATCATTTACCTGCCCA Codon: ATC/ATGGGCAGGTAAATGATGAAGTGGGGGTC Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.10103357_10103358insCCCCCACTTCATCATTTACCTGCCCA Locations: - p.Ile706MetfsTer4 (Ensembl:ENSMUST00000042290) - c.2117_2118insGGGCAGGTAAATGATGAAGTGGGGGT (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3391240078 | 708 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.10103351T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10103351T>A Locations: - p.Tyr708Phe (Ensembl:ENSMUST00000042290) - c.2123A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388528613 | 712 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000068.8:g.10103340T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10103340T>C Locations: - p.Ser712Gly (Ensembl:ENSMUST00000042290) - c.2134A>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388525700 | 756 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10102855T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10102855T>A Locations: - p.Ser756Cys (Ensembl:ENSMUST00000042290) - c.2266A>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388527976 | 763 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.10102834_10102835insACGTCCTCCACACTACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGTAGTGTGGAGGACGT Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.10102834_10102835insACGTCCTCCACACTACCTCAACCATCACTCA Locations: - p.Gly763Ter (Ensembl:ENSMUST00000042290) - c.2286_2287insTGAGTGATGGTTGAGGTAGTGTGGAGGACGT (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388530610 | 782 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10102776A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10102776A>G Locations: - p.Leu782Pro (Ensembl:ENSMUST00000042290) - c.2345T>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388529189 | 796 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10102734G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10102734G>A Locations: - p.Thr796Ile (Ensembl:ENSMUST00000042290) - c.2387C>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388529690 | 829 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.10101984G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10101984G>A Locations: - p.His829Tyr (Ensembl:ENSMUST00000042290) - c.2485C>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs256461686 | 833 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.10101971C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10101971C>T Locations: - p.Arg833Lys (Ensembl:ENSMUST00000042290) - c.2498G>A (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388525886 | 851 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000068.8:g.10101917T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10101917T>G Locations: - p.Lys851Thr (Ensembl:ENSMUST00000042290) - c.2552A>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs213049674 | 868 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000068.8:g.10101353C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10101353C>A Locations: - p.Ala868Ser (Ensembl:ENSMUST00000042290) - c.2602G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388532027 | 877 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.10101326C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.10101326C>A Locations: - p.Gly877Ter (Ensembl:ENSMUST00000042290) - c.2629G>T (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388528657 | 903 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.10099697G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10099697G>C Locations: - p.Asp903Glu (Ensembl:ENSMUST00000042290) - c.2709C>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388532077 | 911 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.10099674C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10099674C>G Locations: - p.Gly911Ala (Ensembl:ENSMUST00000042290) - c.2732G>C (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3391201285 | 940 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.10099586G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.10099586G>C Locations: - p.Tyr940Ter (Ensembl:ENSMUST00000042290) - c.2820C>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: | |||||||
rs3388528705 | 945 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000068.8:g.10099573G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.10099573G>C Locations: - p.Arg945Gly (Ensembl:ENSMUST00000042290) - c.2833C>G (Ensembl:ENSMUST00000042290) Source type: large scale study Cross-references: |