P51637 · CAV3_MOUSE
- ProteinCaveolin-3
- GeneCav3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids151 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388831802 | 35 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000072.7:g.112436875G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.112436875G>A Locations: - p.Asp35Asn (Ensembl:ENSMUST00000075477) - c.103G>A (Ensembl:ENSMUST00000075477) Source type: large scale study Cross-references: | |||||||
rs3397157915 | 64 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.112449174C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.112449174C>T Locations: - p.Thr64Met (Ensembl:ENSMUST00000075477) - c.191C>T (Ensembl:ENSMUST00000075477) Source type: large scale study Cross-references: | |||||||
rs3388833788 | 101 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.112449285G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.112449285G>A Locations: - p.Trp101Ter (Ensembl:ENSMUST00000075477) - c.302G>A (Ensembl:ENSMUST00000075477) Source type: large scale study Cross-references: | |||||||
rs234460164 | 134 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000072.7:g.112449383G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.112449383G>A Locations: - p.Ala134Thr (Ensembl:ENSMUST00000075477) - c.400G>A (Ensembl:ENSMUST00000075477) Source type: large scale study Cross-references: |