G5E8A8 · TEKT5_MOUSE
- ProteinTektin-5
- GeneTekt5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids557 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389397273 | 7 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.10213264G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10213264G>A Locations: - p.Thr7Ile (Ensembl:ENSMUST00000043415) - c.20C>T (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389367693 | 33 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000082.7:g.10213186A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10213186A>G Locations: - p.Val33Ala (Ensembl:ENSMUST00000043415) - c.98T>C (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3406574782 | 60 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.10213105G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10213105G>T Locations: - p.Ala60Asp (Ensembl:ENSMUST00000043415) - c.179C>A (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs246988382 | 60 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000082.7:g.10213106C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10213106C>T Locations: - p.Ala60Thr (Ensembl:ENSMUST00000043415) - c.178G>A (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs46170126 | 94 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.10213004C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10213004C>T Locations: - p.Asp94Asn (Ensembl:ENSMUST00000043415) - c.280G>A (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389389896 | 208 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.10205046A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10205046A>C Locations: - p.His208Gln (Ensembl:ENSMUST00000043415) - c.624T>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs260734164 | 217 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.10205021G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10205021G>A Locations: - p.Arg217Trp (Ensembl:ENSMUST00000043415) - c.649C>T (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389414045 | 220 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000082.7:g.10203990T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10203990T>C Locations: - p.Asp220Gly (Ensembl:ENSMUST00000043415) - c.659A>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389406097 | 274 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.10200700A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10200700A>T Locations: - p.Ser274Thr (Ensembl:ENSMUST00000043415) - c.820T>A (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs260410746 | 283 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000082.7:g.10200673C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10200673C>T Locations: - p.Val283Met (Ensembl:ENSMUST00000043415) - c.847G>A (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389397632 | 293 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.10196973G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10196973G>T Locations: - p.Pro293Thr (Ensembl:ENSMUST00000043415) - c.877C>A (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs220871919 | 373 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.5) Somatic: No Accession: NC_000082.7:g.10179249T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10179249T>G Locations: - p.Asn373His (Ensembl:ENSMUST00000043415) - c.1117A>C (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389392643 | 375 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.10179242A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10179242A>G Locations: - p.Ile375Thr (Ensembl:ENSMUST00000043415) - c.1124T>C (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389367703 | 387 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000082.7:g.10179205G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 16q Genomic location: NC_000082.7:g.10179205G>C Locations: - p.Tyr387Ter (Ensembl:ENSMUST00000043415) - c.1161C>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs238229050 | 387 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000082.7:g.10179206T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10179206T>C Locations: - p.Tyr387Cys (Ensembl:ENSMUST00000043415) - c.1160A>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389367663 | 463 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000082.7:g.10176156C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10176156C>A Locations: - p.Cys463Phe (Ensembl:ENSMUST00000043415) - c.1388G>T (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs4160725 | 514 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000082.7:g.10176003T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10176003T>C Locations: - p.Lys514Arg (Ensembl:ENSMUST00000043415) - c.1541A>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389409054 | 522 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000082.7:g.10175980C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10175980C>A Locations: - p.Gly522Trp (Ensembl:ENSMUST00000043415) - c.1564G>T (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389399355 | 541 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000082.7:g.10175922A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10175922A>C Locations: - p.Leu541Arg (Ensembl:ENSMUST00000043415) - c.1622T>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs243858538 | 549 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000082.7:g.10175899A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10175899A>G Locations: - p.Ser549Pro (Ensembl:ENSMUST00000043415) - c.1645T>C (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3389315170 | 555 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000082.7:g.10175880G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.10175880G>C Locations: - p.Pro555Arg (Ensembl:ENSMUST00000043415) - c.1664C>G (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: | |||||||
rs3405013791 | 558 | *>L | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000082.7:g.10175873dup Codon: TAA/TTAA Consequence type: stop lost Cytogenetic band: 16q Genomic location: NC_000082.7:g.10175873dup Locations: - p.Ter558LeufsTer? (Ensembl:ENSMUST00000043415) - c.1672_1673insT (Ensembl:ENSMUST00000043415) Source type: large scale study Cross-references: |