Q8C6I2 · SDHF2_MOUSE
- ProteinSuccinate dehydrogenase assembly factor 2, mitochondrial
- GeneSdhaf2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids164 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs262787603 | 24 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.74) Somatic: No Accession: NC_000085.7:g.10494716G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.10494716G>A Locations: - p.Pro24Leu (Ensembl:ENSMUST00000025570) - c.71C>T (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: | |||||||
rs3389537152 | 38 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000085.7:g.10494675G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.10494675G>T Locations: - p.Pro38Thr (Ensembl:ENSMUST00000025570) - c.112C>A (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: | |||||||
rs13472215 | 93 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000085.7:g.10494430T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.10494430T>G Locations: - p.His93Pro (Ensembl:ENSMUST00000025570) - c.278A>C (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: | |||||||
rs3389482860 | 94 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.8) Somatic: No Accession: NC_000085.7:g.10494426G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.10494426G>C Locations: - p.Asn94Lys (Ensembl:ENSMUST00000025570) - c.282C>G (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: | |||||||
rs3389505333 | 114 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.10494366C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.10494366C>T Locations: - p.Trp114Ter (Ensembl:ENSMUST00000025570) - c.342G>A (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: | |||||||
rs3389537134 | 137 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000085.7:g.10480447C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.10480447C>A Locations: - p.Leu137Phe (Ensembl:ENSMUST00000025570) - c.411G>T (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: | |||||||
rs3389534663 | 143 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000085.7:g.10480430T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.10480430T>C Locations: - p.Lys143Arg (Ensembl:ENSMUST00000025570) - c.428A>G (Ensembl:ENSMUST00000025570) Source type: large scale study Cross-references: |