P40957 · MAD1_YEAST
- ProteinSpindle assembly checkpoint component MAD1
- GeneMAD1
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids749 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s07-347171 | 17 | R>Q | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: VII:g.347168G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Genomic location: VII:g.347168G>A Locations: - p.Arg17Gln (Ensembl:YGL086W_mRNA) - c.50G>A (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347171 | |||||||
s07-347216 | 32 | Y>C | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: VII:g.347213A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: Genomic location: VII:g.347213A>G Locations: - p.Tyr32Cys (Ensembl:YGL086W_mRNA) - c.95A>G (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347216 | |||||||
s07-347267 | 49 | G>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: VII:g.347264G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: Genomic location: VII:g.347264G>T Locations: - p.Gly49Val (Ensembl:YGL086W_mRNA) - c.146G>T (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347267 | |||||||
s07-347281 | 54 | G>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.73) Somatic: No Accession: VII:g.347278G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: VII:g.347278G>A Locations: - p.Gly54Ser (Ensembl:YGL086W_mRNA) - c.160G>A (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347281 | |||||||
s07-347526 | 135 | M>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: VII:g.347523G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: Genomic location: VII:g.347523G>A Locations: - p.Met135Ile (Ensembl:YGL086W_mRNA) - c.405G>A (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347526 | |||||||
s07-347597 | 159 | L>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: VII:g.347594T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: Genomic location: VII:g.347594T>C Locations: - p.Leu159Ser (Ensembl:YGL086W_mRNA) - c.476T>C (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347597 | |||||||
s07-347720 | 200 | V>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.38) Somatic: No Accession: VII:g.347717T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Genomic location: VII:g.347717T>G Locations: - p.Val200Gly (Ensembl:YGL086W_mRNA) - c.599T>G (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347720 | |||||||
s07-347996 | 292 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: VII:g.347993G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: Genomic location: VII:g.347993G>C Locations: - p.Ser292Thr (Ensembl:YGL086W_mRNA) - c.875G>C (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-347996 | |||||||
s07-348071 | 317 | K>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: VII:g.348068A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: Genomic location: VII:g.348068A>C Locations: - p.Lys317Thr (Ensembl:YGL086W_mRNA) - c.950A>C (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-348071 | |||||||
s07-348096 | 325 | D>E | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: VII:g.348093C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: VII:g.348093C>A Locations: - p.Asp325Glu (Ensembl:YGL086W_mRNA) - c.975C>A (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-348096 | |||||||
s07-348218 | 366 | K>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: VII:g.348215A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: Genomic location: VII:g.348215A>G Locations: - p.Lys366Arg (Ensembl:YGL086W_mRNA) - c.1097A>G (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-348218 | |||||||
s07-348254 | 378 | R>Q | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: VII:g.348251G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Genomic location: VII:g.348251G>A Locations: - p.Arg378Gln (Ensembl:YGL086W_mRNA) - c.1133G>A (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-348254 | |||||||
s07-348926 | 602 | L>R | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: VII:g.348923T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: Genomic location: VII:g.348923T>G Locations: - p.Leu602Arg (Ensembl:YGL086W_mRNA) - c.1805T>G (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-348926 | |||||||
s07-349168 | 683 | S>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: VII:g.349165A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: Genomic location: VII:g.349165A>G Locations: - p.Ser683Gly (Ensembl:YGL086W_mRNA) - c.2047A>G (Ensembl:YGL086W_mRNA) Source type: large scale study Cross-references: - SGRP: s07-349168 |