Q08970 · MMT2_YEAST
- ProteinMitochondrial metal transporter 2
- GeneMMT2
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids484 (go to sequence)
- Protein existenceInferred from homology
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s16-127984 | 35 | S>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: XVI:g.127985C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127985C>T Locations: - p.Ser35Asn (Ensembl:YPL224C_mRNA) - c.104G>A (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127984 | |||||||
s16-127907 | 61 | E>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: XVI:g.127908C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127908C>T Locations: - p.Glu61Lys (Ensembl:YPL224C_mRNA) - c.181G>A (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127907 | |||||||
s16-127900 | 63 | G>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: XVI:g.127901C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127901C>T Locations: - p.Gly63Asp (Ensembl:YPL224C_mRNA) - c.188G>A (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127900 | |||||||
s16-127886 | 68 | L>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: XVI:g.127887G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127887G>A Locations: - p.Leu68Phe (Ensembl:YPL224C_mRNA) - c.202C>T (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127886 | |||||||
s16-127883 | 69 | I>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.51) Somatic: No Accession: XVI:g.127884T>G Codon: ATT/CTT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127884T>G Locations: - p.Ile69Leu (Ensembl:YPL224C_mRNA) - c.205A>C (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127883 | |||||||
s16-127828 | 87 | G>A | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: XVI:g.127829C>G Codon: GGA/GCA Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127829C>G Locations: - p.Gly87Ala (Ensembl:YPL224C_mRNA) - c.260G>C (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127828 | |||||||
s16-127390 | 233 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: XVI:g.127391G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: XVI:g.127391G>A Locations: - p.Ala233Val (Ensembl:YPL224C_mRNA) - c.698C>T (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-127390 | |||||||
s16-126935 | 385 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: XVI:g.126936A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: Genomic location: XVI:g.126936A>G Locations: - p.Ser385Pro (Ensembl:YPL224C_mRNA) - c.1153T>C (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-126935 | |||||||
s16-126726 | 455 | K>* | SGRP | ||||
Consequence: stop gained Somatic: No Accession: XVI:g.126726T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: XVI:g.126726T>A Locations: - p.Lys455Ter (Ensembl:YPL224C_mRNA) - c.1363A>T (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-126726 | |||||||
s16-126720 | 457 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: XVI:g.126720C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: XVI:g.126720C>T Locations: - p.Asp457Asn (Ensembl:YPL224C_mRNA) - c.1369G>A (Ensembl:YPL224C_mRNA) Source type: large scale study Cross-references: - SGRP: s16-126720 |