P13382 · DPOLA_YEAST
- ProteinDNA polymerase alpha catalytic subunit A
- GenePOL1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids1468 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s14-430149 | 21 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: XIV:g.430147A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430147A>G Locations: - p.Thr21Ala (Ensembl:YNL102W_mRNA) - c.61A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430149 | |||||||
s14-430161 | 25 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: XIV:g.430159G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430159G>A Locations: - p.Asp25Asn (Ensembl:YNL102W_mRNA) - c.73G>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430161 | |||||||
s14-430330 | 81 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: XIV:g.430328A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430328A>G Locations: - p.Asn81Ser (Ensembl:YNL102W_mRNA) - c.242A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430330 | |||||||
s14-430351 | 88 | T>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: XIV:g.430349C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430349C>T Locations: - p.Thr88Ile (Ensembl:YNL102W_mRNA) - c.263C>T (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430351 | |||||||
s14-430497 | 137 | I>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: XIV:g.430495A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430495A>G Locations: - p.Ile137Val (Ensembl:YNL102W_mRNA) - c.409A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430497 | |||||||
s14-430583 | 165 | E>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.59) Somatic: No Accession: XIV:g.430581A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430581A>C Locations: - p.Glu165Asp (Ensembl:YNL102W_mRNA) - c.495A>C (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430583 | |||||||
s14-430846 | 253 | D>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: XIV:g.430844A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.430844A>G Locations: - p.Asp253Gly (Ensembl:YNL102W_mRNA) - c.758A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-430846 | |||||||
s14-431065 | 326 | L>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: XIV:g.431063T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.431063T>C Locations: - p.Leu326Ser (Ensembl:YNL102W_mRNA) - c.977T>C (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-431065 | |||||||
s14-431074 | 329 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: XIV:g.431072A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: XIV:g.431072A>G Locations: - p.Asn329Ser (Ensembl:YNL102W_mRNA) - c.986A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-431074 | |||||||
s14-431218 | 377 | D>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XIV:g.431216A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.431216A>G Locations: - p.Asp377Gly (Ensembl:YNL102W_mRNA) - c.1130A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-431218 | |||||||
s14-431243 | 385 | Q>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: XIV:g.431241A>T Codon: CAA/CAT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.431241A>T Locations: - p.Gln385His (Ensembl:YNL102W_mRNA) - c.1155A>T (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-431243 | |||||||
493 | G>R | temperature sensitive mutant (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Genomic location: Locations: - p.Gly493Arg (UniProt:P13382) Source type: uniprot | |||||||
s14-431776 | 563 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: XIV:g.431774C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: XIV:g.431774C>T Locations: - p.Ala563Val (Ensembl:YNL102W_mRNA) - c.1688C>T (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-431776 | |||||||
s14-432402 | 772 | T>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XIV:g.432400A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: XIV:g.432400A>T Locations: - p.Thr772Ser (Ensembl:YNL102W_mRNA) - c.2314A>T (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-432402 | |||||||
s14-432580 | 831 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: XIV:g.432578A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.432578A>G Locations: - p.Asn831Ser (Ensembl:YNL102W_mRNA) - c.2492A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-432580 | |||||||
s14-433023 | 979 | M>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: XIV:g.433021A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433021A>G Locations: - p.Met979Val (Ensembl:YNL102W_mRNA) - c.2935A>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433023 | |||||||
s14-433150 | 1021 | R>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XIV:g.433148G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433148G>A Locations: - p.Arg1021Lys (Ensembl:YNL102W_mRNA) - c.3062G>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433150 | |||||||
s14-433273 | 1062 | G>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XIV:g.433271G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433271G>A Locations: - p.Gly1062Glu (Ensembl:YNL102W_mRNA) - c.3185G>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433273 | |||||||
s14-433276 | 1063 | T>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: XIV:g.433274C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433274C>G Locations: - p.Thr1063Ser (Ensembl:YNL102W_mRNA) - c.3188C>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433276 | |||||||
s14-433633 | 1182 | A>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: XIV:g.433631C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433631C>G Locations: - p.Ala1182Gly (Ensembl:YNL102W_mRNA) - c.3545C>G (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433633 | |||||||
s14-433683 | 1199 | V>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: XIV:g.433681G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433681G>A Locations: - p.Val1199Ile (Ensembl:YNL102W_mRNA) - c.3595G>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433683 | |||||||
s14-433708 | 1207 | I>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XIV:g.433706T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433706T>A Locations: - p.Ile1207Lys (Ensembl:YNL102W_mRNA) - c.3620T>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433708 | |||||||
s14-433834 | 1249 | F>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: XIV:g.433832T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433832T>C Locations: - p.Phe1249Ser (Ensembl:YNL102W_mRNA) - c.3746T>C (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433834 | |||||||
s14-433915 | 1276 | R>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: XIV:g.433913G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.433913G>A Locations: - p.Arg1276Lys (Ensembl:YNL102W_mRNA) - c.3827G>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-433915 | |||||||
s14-434007 | 1307 | V>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: XIV:g.434005G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.434005G>C Locations: - p.Val1307Leu (Ensembl:YNL102W_mRNA) - c.3919G>C (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-434007 | |||||||
s14-434122 | 1345 | W>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: XIV:g.434120G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: Genomic location: XIV:g.434120G>T Locations: - p.Trp1345Leu (Ensembl:YNL102W_mRNA) - c.4034G>T (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-434122 | |||||||
s14-434154 | 1356 | V>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: XIV:g.434152G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: XIV:g.434152G>A Locations: - p.Val1356Ile (Ensembl:YNL102W_mRNA) - c.4066G>A (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-434154 | |||||||
s14-434166 | 1360 | V>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: XIV:g.434164G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: Genomic location: XIV:g.434164G>C Locations: - p.Val1360Leu (Ensembl:YNL102W_mRNA) - c.4078G>C (Ensembl:YNL102W_mRNA) Source type: large scale study Cross-references: - SGRP: s14-434166 |