O70370 · CATS_MOUSE
- ProteinCathepsin S
- GeneCtss
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids340 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3541639874 | 9 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000069.7:g.95434236T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95434236T>C Locations: - p.Ile9Thr (Ensembl:ENSMUST00000116304) - c.26T>C (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388642662 | 38 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.95436833C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95436833C>A Locations: - p.Leu38Ile (Ensembl:ENSMUST00000116304) - c.112C>A (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs250718036 | 72 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95446095C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95446095C>T Locations: - p.Leu72Phe (Ensembl:ENSMUST00000116304) - c.214C>T (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs228354008 | 97 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000069.7:g.95450340T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450340T>C Locations: - p.Leu97Ser (Ensembl:ENSMUST00000116304) - c.290T>C (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs246388285 | 99 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000069.7:g.95450346G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450346G>A Locations: - p.Arg99Gln (Ensembl:ENSMUST00000116304) - c.296G>A (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388642975 | 101 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.95450352G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450352G>A Locations: - p.Gly101Asp (Ensembl:ENSMUST00000116304) - c.302G>A (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388648662 | 103 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000069.7:g.95450357C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450357C>A Locations: - p.Leu103Met (Ensembl:ENSMUST00000116304) - c.307C>A (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs217318565 | 106 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.95450367C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450367C>T Locations: - p.Pro106Leu (Ensembl:ENSMUST00000116304) - c.317C>T (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388646409 | 114 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000069.7:g.95450391C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450391C>G Locations: - p.Thr114Ser (Ensembl:ENSMUST00000116304) - c.341C>G (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388651698 | 126 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000069.7:g.95450426A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450426A>G Locations: - p.Thr126Ala (Ensembl:ENSMUST00000116304) - c.376A>G (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388645023 | 132 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95450446G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95450446G>T Locations: - p.Lys132Asn (Ensembl:ENSMUST00000116304) - c.396G>T (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388645062 | 145 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.95452653G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95452653G>C Locations: - p.Gly145Arg (Ensembl:ENSMUST00000116304) - c.433G>C (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388644615 | 168 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000069.7:g.95452722A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95452722A>T Locations: - p.Ile168Leu (Ensembl:ENSMUST00000116304) - c.502A>T (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs253031261 | 187 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000069.7:g.95452779A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95452779A>G Locations: - p.Lys187Glu (Ensembl:ENSMUST00000116304) - c.559A>G (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs220525835 | 218 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000069.7:g.95452873C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95452873C>T Locations: - p.Thr218Met (Ensembl:ENSMUST00000116304) - c.653C>T (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388649821 | 269 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000069.7:g.95454257T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95454257T>A Locations: - p.Phe269Ile (Ensembl:ENSMUST00000116304) - c.805T>A (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs3388648709 | 279 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000069.7:g.95457379C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95457379C>T Locations: - p.Pro279Leu (Ensembl:ENSMUST00000116304) - c.836C>T (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: | |||||||
rs33128450 | 334 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000069.7:g.95463473T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.95463473T>G Locations: - p.Tyr334Asp (Ensembl:ENSMUST00000116304) - c.1000T>G (Ensembl:ENSMUST00000116304) Source type: large scale study Cross-references: |