Q8R3J4 · MTEF3_MOUSE
- ProteinTranscription termination factor 3, mitochondrial
- GeneMterf3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids412 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs259310432 | 28 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000079.7:g.67078184T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078184T>A Locations: - p.Lys28Asn (Ensembl:ENSMUST00000021991) - c.84A>T (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs248837625 | 29 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000079.7:g.67078182C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078182C>T Locations: - p.Arg29His (Ensembl:ENSMUST00000021991) - c.86G>A (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs228593336 | 37 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000079.7:g.67078158A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078158A>T Locations: - p.Val37Glu (Ensembl:ENSMUST00000021991) - c.110T>A (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs262002607 | 45 | P>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000079.7:g.67078135G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078135G>C Locations: - p.Pro45Ala (Ensembl:ENSMUST00000021991) - c.133C>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs230903923 | 51 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000079.7:g.67078117T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078117T>C Locations: - p.Thr51Ala (Ensembl:ENSMUST00000021991) - c.151A>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs46881587 | 52 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000079.7:g.67078114T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078114T>A Locations: - p.Ser52Cys (Ensembl:ENSMUST00000021991) - c.154A>T (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389264836 | 67 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000079.7:g.67078068T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078068T>A Locations: - p.Asn67Ile (Ensembl:ENSMUST00000021991) - c.200A>T (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs220529112 | 73 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.67) Somatic: No Accession: NC_000079.7:g.67078050C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078050C>T Locations: - p.Ser73Asn (Ensembl:ENSMUST00000021991) - c.218G>A (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3404295890 | 80 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000079.7:g.67078030A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078030A>C Locations: - p.Ser80Ala (Ensembl:ENSMUST00000021991) - c.238T>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389292596 | 89 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000079.7:g.67078003C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67078003C>T Locations: - p.Val89Met (Ensembl:ENSMUST00000021991) - c.265G>A (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs230972593 | 108 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.67076384C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67076384C>G Locations: - p.Val108Leu (Ensembl:ENSMUST00000021991) - c.322G>C (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389256614 | 112 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000079.7:g.67076372G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67076372G>A Locations: - p.Pro112Ser (Ensembl:ENSMUST00000021991) - c.334C>T (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389288301 | 119 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000079.7:g.67076350G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67076350G>A Locations: - p.Ser119Leu (Ensembl:ENSMUST00000021991) - c.356C>T (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3404403306 | 135 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.67076302G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67076302G>T Locations: - p.Pro135His (Ensembl:ENSMUST00000021991) - c.404C>A (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389264865 | 150 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.67076258T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67076258T>A Locations: - p.Thr150Ser (Ensembl:ENSMUST00000021991) - c.448A>T (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs249482841 | 241 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000079.7:g.67065177A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67065177A>T Locations: - p.Asn241Lys (Ensembl:ENSMUST00000021991) - c.723T>A (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs49329505 | 253 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000079.7:g.67065143G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67065143G>C Locations: - p.Leu253Val (Ensembl:ENSMUST00000021991) - c.757C>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389218480 | 292 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.67064685T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67064685T>C Locations: - p.Asn292Asp (Ensembl:ENSMUST00000021991) - c.874A>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389288282 | 295 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000079.7:g.67062851A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67062851A>G Locations: - p.Val295Ala (Ensembl:ENSMUST00000021991) - c.884T>C (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389264881 | 310 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000079.7:g.67062806A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67062806A>G Locations: - p.Met310Thr (Ensembl:ENSMUST00000021991) - c.929T>C (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs3389298092 | 323 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000079.7:g.67062768T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67062768T>C Locations: - p.Arg323Gly (Ensembl:ENSMUST00000021991) - c.967A>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs213637416 | 328 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000079.7:g.67062752A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67062752A>G Locations: - p.Ile328Thr (Ensembl:ENSMUST00000021991) - c.983T>C (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs864300840 | 399 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000079.7:g.67060292T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67060292T>G Locations: - p.Lys399Gln (Ensembl:ENSMUST00000021991) - c.1195A>C (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: | |||||||
rs864271418 | 412 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000079.7:g.67060252A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.67060252A>C Locations: - p.Leu412Arg (Ensembl:ENSMUST00000021991) - c.1235T>G (Ensembl:ENSMUST00000021991) Source type: large scale study Cross-references: |