P40541 · SCC3_YEAST
- ProteinCohesin subunit SCC3
- GeneIRR1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids1150 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s09-307878 | 17 | I>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: IX:g.307880A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: Genomic location: IX:g.307880A>G Locations: - p.Ile17Thr (Ensembl:YIL026C_mRNA) - c.50T>C (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-307878 | |||||||
s09-307777 | 51 | T>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: IX:g.307779T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Genomic location: IX:g.307779T>G Locations: - p.Thr51Pro (Ensembl:YIL026C_mRNA) - c.151A>C (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-307777 | |||||||
s09-307414 | 172 | I>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: IX:g.307416T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: Genomic location: IX:g.307416T>G Locations: - p.Ile172Leu (Ensembl:YIL026C_mRNA) - c.514A>C (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-307414 | |||||||
s09-307248 | 227 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: IX:g.307250T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: IX:g.307250T>C Locations: - p.Lys227Arg (Ensembl:YIL026C_mRNA) - c.680A>G (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-307248 | |||||||
s09-306504 | 475 | T>M | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: IX:g.306506G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Genomic location: IX:g.306506G>A Locations: - p.Thr475Met (Ensembl:YIL026C_mRNA) - c.1424C>T (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-306504 | |||||||
s09-306115 | 605 | N>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: IX:g.306117T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: IX:g.306117T>C Locations: - p.Asn605Asp (Ensembl:YIL026C_mRNA) - c.1813A>G (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-306115 | |||||||
s09-306045 | 628 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: IX:g.306047C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: IX:g.306047C>G Locations: - p.Ser628Thr (Ensembl:YIL026C_mRNA) - c.1883G>C (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-306045 | |||||||
s09-306035 | 631 | E>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: IX:g.306037C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Genomic location: IX:g.306037C>A Locations: - p.Glu631Asp (Ensembl:YIL026C_mRNA) - c.1893G>T (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-306035 | |||||||
s09-305814 | 705 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: IX:g.305816C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: Genomic location: IX:g.305816C>G Locations: - p.Ser705Thr (Ensembl:YIL026C_mRNA) - c.2114G>C (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305814 | |||||||
s09-305749 | 727 | T>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: IX:g.305751T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: Genomic location: IX:g.305751T>A Locations: - p.Thr727Ser (Ensembl:YIL026C_mRNA) - c.2179A>T (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305749 | |||||||
s09-305566 | 788 | K>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: IX:g.305568T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: Genomic location: IX:g.305568T>C Locations: - p.Lys788Glu (Ensembl:YIL026C_mRNA) - c.2362A>G (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305566 | |||||||
s09-305475 | 818 | R>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: IX:g.305477C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: IX:g.305477C>T Locations: - p.Arg818Lys (Ensembl:YIL026C_mRNA) - c.2453G>A (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305475 | |||||||
s09-305283 | 882 | E>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: IX:g.305285T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: IX:g.305285T>A Locations: - p.Glu882Val (Ensembl:YIL026C_mRNA) - c.2645A>T (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305283 | |||||||
s09-305238 | 897 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: IX:g.305240G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: IX:g.305240G>A Locations: - p.Ala897Val (Ensembl:YIL026C_mRNA) - c.2690C>T (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305238 | |||||||
s09-305215 | 905 | T>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: IX:g.305217T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Genomic location: IX:g.305217T>C Locations: - p.Thr905Ala (Ensembl:YIL026C_mRNA) - c.2713A>G (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-305215 | |||||||
s09-304998 | 977 | K>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: IX:g.305000T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: Genomic location: IX:g.305000T>A Locations: - p.Lys977Ile (Ensembl:YIL026C_mRNA) - c.2930A>T (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-304998 | |||||||
s09-304736 | 1064 | M>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: IX:g.304738C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: Genomic location: IX:g.304738C>T Locations: - p.Met1064Ile (Ensembl:YIL026C_mRNA) - c.3192G>A (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-304736 | |||||||
s09-304638 | 1097 | T>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: IX:g.304640G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: IX:g.304640G>T Locations: - p.Thr1097Asn (Ensembl:YIL026C_mRNA) - c.3290C>A (Ensembl:YIL026C_mRNA) Source type: large scale study Cross-references: - SGRP: s09-304638 |