P33334 · PRP8_YEAST
- ProteinPre-mRNA-splicing factor 8
- GenePRP8
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids2413 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s08-436941 | 4 | L>I | SGRP | ||||
Consequence: missense Somatic: No Accession: VIII:g.436939G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436939G>T Locations: - p.Leu4Ile (Ensembl:YHR165C_mRNA) - c.10C>A (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436941 | |||||||
s08-436812 | 47 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: VIII:g.436810T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436810T>C Locations: - p.Thr47Ala (Ensembl:YHR165C_mRNA) - c.139A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436812 | |||||||
s08-436782 | 57 | S>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.67) Somatic: No Accession: VIII:g.436780T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436780T>C Locations: - p.Ser57Gly (Ensembl:YHR165C_mRNA) - c.169A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436782 | |||||||
s08-436697 | 85 | T>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: VIII:g.436695G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436695G>T Locations: - p.Thr85Asn (Ensembl:YHR165C_mRNA) - c.254C>A (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436697 | |||||||
s08-436640 | 104 | D>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: VIII:g.436638T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436638T>G Locations: - p.Asp104Ala (Ensembl:YHR165C_mRNA) - c.311A>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436640 | |||||||
s08-436610 | 114 | R>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: VIII:g.436608C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436608C>T Locations: - p.Arg114His (Ensembl:YHR165C_mRNA) - c.341G>A (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436610 | |||||||
s08-436590 | 121 | K>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: VIII:g.436588T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436588T>C Locations: - p.Lys121Glu (Ensembl:YHR165C_mRNA) - c.361A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436590 | |||||||
s08-436487 | 155 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: VIII:g.436485T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436485T>C Locations: - p.Asn155Ser (Ensembl:YHR165C_mRNA) - c.464A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436487 | |||||||
s08-436447 | 168 | L>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: VIII:g.436445T>G Codon: TTA/TTC Consequence type: missense Cytogenetic band: Genomic location: VIII:g.436445T>G Locations: - p.Leu168Phe (Ensembl:YHR165C_mRNA) - c.504A>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-436447 | |||||||
s08-435695 | 419 | T>M | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: VIII:g.435693G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: VIII:g.435693G>A Locations: - p.Thr419Met (Ensembl:YHR165C_mRNA) - c.1256C>T (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-435695 | |||||||
s08-435608 | 448 | E>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: VIII:g.435606T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: VIII:g.435606T>C Locations: - p.Glu448Gly (Ensembl:YHR165C_mRNA) - c.1343A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-435608 | |||||||
s08-435557 | 465 | E>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: VIII:g.435555T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: VIII:g.435555T>C Locations: - p.Glu465Gly (Ensembl:YHR165C_mRNA) - c.1394A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-435557 | |||||||
s08-435541 | 470 | L>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: VIII:g.435539C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.435539C>A Locations: - p.Leu470Phe (Ensembl:YHR165C_mRNA) - c.1410G>T (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-435541 | |||||||
s08-434156 | 932 | S>C | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: VIII:g.434154G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.434154G>C Locations: - p.Ser932Cys (Ensembl:YHR165C_mRNA) - c.2795C>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-434156 | |||||||
s08-433875 | 1026 | Y>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: VIII:g.433873A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Genomic location: VIII:g.433873A>G Locations: - p.Tyr1026His (Ensembl:YHR165C_mRNA) - c.3076T>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-433875 | |||||||
s08-433531 | 1140 | N>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.94) Somatic: No Accession: VIII:g.433529A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: Genomic location: VIII:g.433529A>T Locations: - p.Asn1140Lys (Ensembl:YHR165C_mRNA) - c.3420T>A (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-433531 | |||||||
s08-433119 | 1278 | V>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: VIII:g.433117C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: Genomic location: VIII:g.433117C>G Locations: - p.Val1278Leu (Ensembl:YHR165C_mRNA) - c.3832G>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-433119 | |||||||
s08-432476 | 1492 | S>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: VIII:g.432474C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: VIII:g.432474C>T Locations: - p.Ser1492Asn (Ensembl:YHR165C_mRNA) - c.4475G>A (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-432476 | |||||||
s08-432249 | 1568 | N>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: VIII:g.432247T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.432247T>G Locations: - p.Asn1568His (Ensembl:YHR165C_mRNA) - c.4702A>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-432249 | |||||||
s08-431784 | 1723 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: VIII:g.431782A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Genomic location: VIII:g.431782A>G Locations: - p.Ser1723Pro (Ensembl:YHR165C_mRNA) - c.5167T>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-431784 | |||||||
s08-430214 | 2246 | D>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: VIII:g.430212T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Genomic location: VIII:g.430212T>C Locations: - p.Asp2246Gly (Ensembl:YHR165C_mRNA) - c.6737A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-430214 | |||||||
s08-429992 | 2320 | D>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: VIII:g.429990T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.429990T>C Locations: - p.Asp2320Gly (Ensembl:YHR165C_mRNA) - c.6959A>G (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-429992 | |||||||
s08-429842 | 2370 | G>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: VIII:g.429840C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: Genomic location: VIII:g.429840C>G Locations: - p.Gly2370Ala (Ensembl:YHR165C_mRNA) - c.7109G>C (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-429842 | |||||||
s08-429750 | 2401 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.32) Somatic: No Accession: VIII:g.429748C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: VIII:g.429748C>T Locations: - p.Asp2401Asn (Ensembl:YHR165C_mRNA) - c.7201G>A (Ensembl:YHR165C_mRNA) Source type: large scale study Cross-references: - SGRP: s08-429750 |