Q04439 · MYO5_YEAST
- ProteinMyosin-5
- GeneMYO5
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids1219 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s13-487449 | 288 | E>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: XIII:g.487450A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.487450A>T Locations: - p.Glu288Asp (Ensembl:YMR109W_mRNA) - c.864A>T (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-487449 | |||||||
s13-487538 | 318 | V>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: XIII:g.487539T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.487539T>C Locations: - p.Val318Ala (Ensembl:YMR109W_mRNA) - c.953T>C (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-487538 | |||||||
s13-487950 | 455 | Q>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: XIII:g.487951A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: Genomic location: XIII:g.487951A>C Locations: - p.Gln455His (Ensembl:YMR109W_mRNA) - c.1365A>C (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-487950 | |||||||
s13-488122 | 513 | H>Y | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: XIII:g.488123C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.488123C>T Locations: - p.His513Tyr (Ensembl:YMR109W_mRNA) - c.1537C>T (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-488122 | |||||||
s13-489509 | 975 | I>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: XIII:g.489510T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489510T>C Locations: - p.Ile975Thr (Ensembl:YMR109W_mRNA) - c.2924T>C (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489509 | |||||||
s13-489568 | 995 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.41) Somatic: No Accession: XIII:g.489569G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489569G>A Locations: - p.Ala995Thr (Ensembl:YMR109W_mRNA) - c.2983G>A (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489568 | |||||||
s13-489571 | 996 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: XIII:g.489572G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489572G>A Locations: - p.Ala996Thr (Ensembl:YMR109W_mRNA) - c.2986G>A (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489571 | |||||||
s13-489700 | 1039 | Q>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.97) Somatic: No Accession: XIII:g.489701C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489701C>A Locations: - p.Gln1039Lys (Ensembl:YMR109W_mRNA) - c.3115C>A (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489700 | |||||||
s13-489785 | 1067 | G>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.62) Somatic: No Accession: XIII:g.489786G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489786G>A Locations: - p.Gly1067Asp (Ensembl:YMR109W_mRNA) - c.3200G>A (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489785 | |||||||
s13-489811 | 1076 | P>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: XIII:g.489812C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489812C>G Locations: - p.Pro1076Ala (Ensembl:YMR109W_mRNA) - c.3226C>G (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489811 | |||||||
s13-489874 | 1097 | P>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.71) Somatic: No Accession: XIII:g.489875C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.489875C>T Locations: - p.Pro1097Ser (Ensembl:YMR109W_mRNA) - c.3289C>T (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-489874 | |||||||
s13-490108 | 1175 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: XIII:g.490109G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: XIII:g.490109G>A Locations: - p.Ala1175Thr (Ensembl:YMR109W_mRNA) - c.3523G>A (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-490108 | |||||||
s13-490109 | 1175 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: XIII:g.490110C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: XIII:g.490110C>T Locations: - p.Ala1175Val (Ensembl:YMR109W_mRNA) - c.3524C>T (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-490109 | |||||||
s13-490190 | 1202 | R>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: XIII:g.490191G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: Genomic location: XIII:g.490191G>A Locations: - p.Arg1202Lys (Ensembl:YMR109W_mRNA) - c.3605G>A (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-490190 | |||||||
s13-490193 | 1203 | L>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: XIII:g.490194T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: Genomic location: XIII:g.490194T>C Locations: - p.Leu1203Ser (Ensembl:YMR109W_mRNA) - c.3608T>C (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-490193 | |||||||
s13-490198 | 1205 | S>C | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: XIII:g.490199A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: Genomic location: XIII:g.490199A>T Locations: - p.Ser1205Cys (Ensembl:YMR109W_mRNA) - c.3613A>T (Ensembl:YMR109W_mRNA) Source type: large scale study Cross-references: - SGRP: s13-490198 |