P47166 · SGM1_YEAST
- ProteinProtein SGM1
- GeneSGM1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids707 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s10-675797 | 17 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: X:g.675803T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: X:g.675803T>C Locations: - p.Lys17Arg (Ensembl:YJR134C_mRNA) - c.50A>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675797 | |||||||
s10-675776 | 24 | R>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: X:g.675782C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: X:g.675782C>T Locations: - p.Arg24Lys (Ensembl:YJR134C_mRNA) - c.71G>A (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675776 | |||||||
s10-675675 | 58 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: X:g.675681A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Genomic location: X:g.675681A>G Locations: - p.Ser58Pro (Ensembl:YJR134C_mRNA) - c.172T>C (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675675 | |||||||
s10-675530 | 106 | M>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: X:g.675536A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Genomic location: X:g.675536A>G Locations: - p.Met106Thr (Ensembl:YJR134C_mRNA) - c.317T>C (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675530 | |||||||
s10-675471 | 126 | V>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: X:g.675477C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Genomic location: X:g.675477C>T Locations: - p.Val126Ile (Ensembl:YJR134C_mRNA) - c.376G>A (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675471 | |||||||
s10-675404 | 148 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: X:g.675410T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: X:g.675410T>C Locations: - p.Asn148Ser (Ensembl:YJR134C_mRNA) - c.443A>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675404 | |||||||
s10-675393 | 152 | Q>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: X:g.675399G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: X:g.675399G>T Locations: - p.Gln152Lys (Ensembl:YJR134C_mRNA) - c.454C>A (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675393 | |||||||
s10-675089 | 253 | T>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.9) Somatic: No Accession: X:g.675095G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: Genomic location: X:g.675095G>T Locations: - p.Thr253Lys (Ensembl:YJR134C_mRNA) - c.758C>A (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-675089 | |||||||
s10-674996 | 284 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.77) Somatic: No Accession: X:g.675002C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: Genomic location: X:g.675002C>G Locations: - p.Ser284Thr (Ensembl:YJR134C_mRNA) - c.851G>C (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674996 | |||||||
s10-674661 | 396 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: X:g.674667C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: X:g.674667C>T Locations: - p.Ala396Thr (Ensembl:YJR134C_mRNA) - c.1186G>A (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674661 | |||||||
s10-674601 | 416 | K>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.86) Somatic: No Accession: X:g.674607T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Genomic location: X:g.674607T>C Locations: - p.Lys416Glu (Ensembl:YJR134C_mRNA) - c.1246A>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674601 | |||||||
s10-674564 | 428 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: X:g.674570G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Genomic location: X:g.674570G>A Locations: - p.Ala428Val (Ensembl:YJR134C_mRNA) - c.1283C>T (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674564 | |||||||
s10-674419 | 476 | D>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: X:g.674425A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: Genomic location: X:g.674425A>C Locations: - p.Asp476Glu (Ensembl:YJR134C_mRNA) - c.1428T>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674419 | |||||||
s10-674394 | 485 | S>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: X:g.674400T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: Genomic location: X:g.674400T>C Locations: - p.Ser485Gly (Ensembl:YJR134C_mRNA) - c.1453A>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674394 | |||||||
s10-674258 | 530 | H>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: X:g.674264T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: Genomic location: X:g.674264T>C Locations: - p.His530Arg (Ensembl:YJR134C_mRNA) - c.1589A>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674258 | |||||||
s10-674137 | 570 | N>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: X:g.674143G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: Genomic location: X:g.674143G>C Locations: - p.Asn570Lys (Ensembl:YJR134C_mRNA) - c.1710C>G (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-674137 | |||||||
s10-673902 | 649 | Q>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: X:g.673908G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: Genomic location: X:g.673908G>T Locations: - p.Gln649Lys (Ensembl:YJR134C_mRNA) - c.1945C>A (Ensembl:YJR134C_mRNA) Source type: large scale study Cross-references: - SGRP: s10-673902 |