Q06216 · PIG1_YEAST
- ProteinSerine/threonine-protein phosphatase 1 regulatory subunit PIG1
- GenePIG1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids648 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s12-690920 | 38 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: XII:g.690918C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: XII:g.690918C>T Locations: - p.Asp38Asn (Ensembl:YLR273C_mRNA) - c.112G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690920 | |||||||
s12-690762 | 90 | N>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: XII:g.690760G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Genomic location: XII:g.690760G>T Locations: - p.Asn90Lys (Ensembl:YLR273C_mRNA) - c.270C>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690762 | |||||||
s12-690727 | 102 | G>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: XII:g.690725C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: XII:g.690725C>T Locations: - p.Gly102Asp (Ensembl:YLR273C_mRNA) - c.305G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690727 | |||||||
s12-690641 | 131 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: XII:g.690639C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: XII:g.690639C>T Locations: - p.Asp131Asn (Ensembl:YLR273C_mRNA) - c.391G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690641 | |||||||
s12-690499 | 178 | Y>C | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: XII:g.690497T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: Genomic location: XII:g.690497T>C Locations: - p.Tyr178Cys (Ensembl:YLR273C_mRNA) - c.533A>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690499 | |||||||
s12-690481 | 184 | G>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: XII:g.690479C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: XII:g.690479C>T Locations: - p.Gly184Glu (Ensembl:YLR273C_mRNA) - c.551G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690481 | |||||||
s12-690251 | 261 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: XII:g.690249A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: Genomic location: XII:g.690249A>T Locations: - p.Ser261Thr (Ensembl:YLR273C_mRNA) - c.781T>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690251 | |||||||
s12-690164 | 290 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: XII:g.690162T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: Genomic location: XII:g.690162T>C Locations: - p.Thr290Ala (Ensembl:YLR273C_mRNA) - c.868A>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690164 | |||||||
s12-690087 | 315 | E>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: XII:g.690085T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: XII:g.690085T>A Locations: - p.Glu315Asp (Ensembl:YLR273C_mRNA) - c.945A>T (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690087 | |||||||
s12-690086 | 316 | Y>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: XII:g.690084A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: Genomic location: XII:g.690084A>G Locations: - p.Tyr316His (Ensembl:YLR273C_mRNA) - c.946T>C (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-690086 | |||||||
s12-689957 | 359 | G>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.77) Somatic: No Accession: XII:g.689955C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: XII:g.689955C>T Locations: - p.Gly359Arg (Ensembl:YLR273C_mRNA) - c.1075G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689957 | |||||||
s12-689918 | 372 | E>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: XII:g.689916C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689916C>T Locations: - p.Glu372Lys (Ensembl:YLR273C_mRNA) - c.1114G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689918 | |||||||
s12-689906 | 376 | K>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: XII:g.689904T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: XII:g.689904T>C Locations: - p.Lys376Glu (Ensembl:YLR273C_mRNA) - c.1126A>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689906 | |||||||
s12-689861 | 391 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: XII:g.689859A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689859A>T Locations: - p.Ser391Thr (Ensembl:YLR273C_mRNA) - c.1171T>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689861 | |||||||
s12-689795 | 413 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: XII:g.689793A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689793A>G Locations: - p.Ser413Pro (Ensembl:YLR273C_mRNA) - c.1237T>C (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689795 | |||||||
s12-689768 | 422 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689766C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: XII:g.689766C>T Locations: - p.Asp422Asn (Ensembl:YLR273C_mRNA) - c.1264G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689768 | |||||||
s12-689522 | 504 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689520T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689520T>C Locations: - p.Thr504Ala (Ensembl:YLR273C_mRNA) - c.1510A>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689522 | |||||||
s12-689512 | 507 | S>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: XII:g.689510G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689510G>A Locations: - p.Ser507Leu (Ensembl:YLR273C_mRNA) - c.1520C>T (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689512 | |||||||
s12-689504 | 510 | Q>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: XII:g.689502G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689502G>C Locations: - p.Gln510Glu (Ensembl:YLR273C_mRNA) - c.1528C>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689504 | |||||||
s12-689396 | 546 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: XII:g.689394T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689394T>C Locations: - p.Thr546Ala (Ensembl:YLR273C_mRNA) - c.1636A>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689396 | |||||||
s12-689359 | 558 | R>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: XII:g.689357C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689357C>T Locations: - p.Arg558Lys (Ensembl:YLR273C_mRNA) - c.1673G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689359 | |||||||
s12-689357 | 559 | K>Q | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: XII:g.689355T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689355T>G Locations: - p.Lys559Gln (Ensembl:YLR273C_mRNA) - c.1675A>C (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689357 | |||||||
s12-689349 | 561 | E>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: XII:g.689347C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: XII:g.689347C>A Locations: - p.Glu561Asp (Ensembl:YLR273C_mRNA) - c.1683G>T (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689349 | |||||||
s12-689341 | 564 | V>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689339A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689339A>G Locations: - p.Val564Ala (Ensembl:YLR273C_mRNA) - c.1691T>C (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689341 | |||||||
s12-689330 | 568 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689328A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: Genomic location: XII:g.689328A>T Locations: - p.Ser568Thr (Ensembl:YLR273C_mRNA) - c.1702T>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689330 | |||||||
s12-689327 | 569 | C>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: XII:g.689325A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: Genomic location: XII:g.689325A>C Locations: - p.Cys569Gly (Ensembl:YLR273C_mRNA) - c.1705T>G (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689327 | |||||||
s12-689318 | 572 | L>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689316A>T Codon: TTA/ATA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689316A>T Locations: - p.Leu572Ile (Ensembl:YLR273C_mRNA) - c.1714T>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689318 | |||||||
s12-689317 | 572 | L>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689315A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689315A>G Locations: - p.Leu572Ser (Ensembl:YLR273C_mRNA) - c.1715T>C (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689317 | |||||||
s12-689315 | 573 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689313A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689313A>G Locations: - p.Ser573Pro (Ensembl:YLR273C_mRNA) - c.1717T>C (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689315 | |||||||
s12-689308 | 575 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689306G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689306G>A Locations: - p.Ala575Val (Ensembl:YLR273C_mRNA) - c.1724C>T (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689308 | |||||||
s12-689297 | 579 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: XII:g.689295C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: Genomic location: XII:g.689295C>T Locations: - p.Ala579Thr (Ensembl:YLR273C_mRNA) - c.1735G>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689297 | |||||||
s12-689218 | 605 | T>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: XII:g.689216G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689216G>T Locations: - p.Thr605Asn (Ensembl:YLR273C_mRNA) - c.1814C>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689218 | |||||||
s12-689149 | 628 | T>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: XII:g.689147G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: XII:g.689147G>A Locations: - p.Thr628Ile (Ensembl:YLR273C_mRNA) - c.1883C>T (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689149 | |||||||
s12-689124 | 636 | H>Q | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: XII:g.689122G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: Genomic location: XII:g.689122G>T Locations: - p.His636Gln (Ensembl:YLR273C_mRNA) - c.1908C>A (Ensembl:YLR273C_mRNA) Source type: large scale study Cross-references: - SGRP: s12-689124 |