P54116 · STOM_MOUSE
- ProteinStomatin
- GeneStom
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids284 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388548865 | 2 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.35226927G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35226927G>A Locations: - p.Ser2Phe (Ensembl:ENSMUST00000028241) - c.5C>T (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388540076 | 9 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000068.8:g.35226906T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35226906T>A Locations: - p.His9Leu (Ensembl:ENSMUST00000028241) - c.26A>T (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388543951 | 21 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000068.8:g.35226871C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35226871C>T Locations: - p.Glu21Lys (Ensembl:ENSMUST00000028241) - c.61G>A (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388543247 | 24 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000068.8:g.35216527T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35216527T>C Locations: - p.Lys24Arg (Ensembl:ENSMUST00000028241) - c.71A>G (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388547943 | 48 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000068.8:g.35216456T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35216456T>C Locations: - p.Ile48Val (Ensembl:ENSMUST00000028241) - c.142A>G (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388548953 | 51 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.35216445C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.35216445C>T Locations: - p.Trp51Ter (Ensembl:ENSMUST00000028241) - c.153G>A (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388548323 | 97 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.35213706C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35213706C>A Locations: - p.Arg97Ser (Ensembl:ENSMUST00000028241) - c.291G>T (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388547870 | 139 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.35211604G>T Codon: GCA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35211604G>T Locations: - p.Ala139Glu (Ensembl:ENSMUST00000028241) - c.416C>A (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388548268 | 144 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.35211590G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35211590G>A Locations: - p.Arg144Cys (Ensembl:ENSMUST00000028241) - c.430C>T (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3540241685 | 188 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.35210440T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35210440T>C Locations: - p.Lys188Arg (Ensembl:ENSMUST00000028241) - c.563A>G (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388547858 | 189 | V>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.35210438_35210439insACTACCTCAACCATCACTCA Codon: -/TGAGTGATGGTTGAGGTAGT Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.35210438_35210439insACTACCTCAACCATCACTCA Locations: - p.Val189Ter (Ensembl:ENSMUST00000028241) - c.564_565insTGAGTGATGGTTGAGGTAGT (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388548697 | 193 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.35210425T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35210425T>C Locations: - p.Glu193Gly (Ensembl:ENSMUST00000028241) - c.578A>G (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388551485 | 226 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.35206052C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35206052C>G Locations: - p.Gly226Arg (Ensembl:ENSMUST00000028241) - c.676G>C (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3391455408 | 230 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.35206039G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35206039G>A Locations: - p.Ala230Val (Ensembl:ENSMUST00000028241) - c.689C>T (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: | |||||||
rs3388550333 | 247 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.35205989C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.35205989C>T Locations: - p.Ala247Thr (Ensembl:ENSMUST00000028241) - c.739G>A (Ensembl:ENSMUST00000028241) Source type: large scale study Cross-references: |