Q402U7 · PRS44_MOUSE
- ProteinSerine protease 44
- GenePrss44
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids372 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs219140463 | 5 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000075.7:g.110643120G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643120G>A Locations: - p.Gly5Asp (Ensembl:ENSMUST00000098345) - c.14G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs239168845 | 9 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.110643131T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643131T>C Locations: - p.Phe9Leu (Ensembl:ENSMUST00000098345) - c.25T>C (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs33300200 | 14 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000075.7:g.110643148G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643148G>T Locations: - p.Trp14Cys (Ensembl:ENSMUST00000098345) - c.42G>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs224686979 | 21 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.45) Somatic: No Accession: NC_000075.7:g.110643168G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643168G>A Locations: - p.Arg21Gln (Ensembl:ENSMUST00000098345) - c.62G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs246829550 | 28 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000075.7:g.110643188G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643188G>A Locations: - p.Val28Ile (Ensembl:ENSMUST00000098345) - c.82G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389076372 | 49 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000075.7:g.110643252A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643252A>T Locations: - p.Asn49Ile (Ensembl:ENSMUST00000098345) - c.146A>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389077435 | 56 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000075.7:g.110643272A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643272A>T Locations: - p.Thr56Ser (Ensembl:ENSMUST00000098345) - c.166A>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs33300202 | 65 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000075.7:g.110643299C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643299C>G Locations: - p.Arg65Gly (Ensembl:ENSMUST00000098345) - c.193C>G (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs254768378 | 74 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: NC_000075.7:g.110643327T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110643327T>C Locations: - p.Leu74Pro (Ensembl:ENSMUST00000098345) - c.221T>C (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs213421935 | 180 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.110644432A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110644432A>G Locations: - p.Gln180Arg (Ensembl:ENSMUST00000098345) - c.539A>G (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389076436 | 204 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000075.7:g.110644504C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110644504C>T Locations: - p.Ala204Val (Ensembl:ENSMUST00000098345) - c.611C>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs236740530 | 211 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.110644524G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110644524G>A Locations: - p.Val211Ile (Ensembl:ENSMUST00000098345) - c.631G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs33300788 | 229 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000075.7:g.110644579C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110644579C>T Locations: - p.Thr229Met (Ensembl:ENSMUST00000098345) - c.686C>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389073154 | 236 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.110644600G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.110644600G>A Locations: - p.Trp236Ter (Ensembl:ENSMUST00000098345) - c.707G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389078731 | 249 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.110645502C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110645502C>A Locations: - p.Leu249Met (Ensembl:ENSMUST00000098345) - c.745C>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389057199 | 275 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000075.7:g.110645581C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110645581C>T Locations: - p.Thr275Ile (Ensembl:ENSMUST00000098345) - c.824C>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3413000887 | 281 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000075.7:g.110645599G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110645599G>A Locations: - p.Gly281Glu (Ensembl:ENSMUST00000098345) - c.842G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389077464 | 305 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000075.7:g.110646188T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110646188T>A Locations: - p.Phe305Tyr (Ensembl:ENSMUST00000098345) - c.914T>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389082946 | 324 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000075.7:g.110646244A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110646244A>G Locations: - p.Ile324Val (Ensembl:ENSMUST00000098345) - c.970A>G (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389023849 | 328 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000075.7:g.110646257G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110646257G>T Locations: - p.Gly328Val (Ensembl:ENSMUST00000098345) - c.983G>T (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs3389057082 | 341 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000075.7:g.110646296T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110646296T>C Locations: - p.Ile341Thr (Ensembl:ENSMUST00000098345) - c.1022T>C (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs237055309 | 351 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000075.7:g.110646327G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110646327G>C Locations: - p.Lys351Asn (Ensembl:ENSMUST00000098345) - c.1053G>C (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: | |||||||
rs263012465 | 357 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.110646343G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.110646343G>A Locations: - p.Val357Ile (Ensembl:ENSMUST00000098345) - c.1069G>A (Ensembl:ENSMUST00000098345) Source type: large scale study Cross-references: |