A6XDB1 · A6XDB1_MOUSE
- ProteinPhosphodiesterase
- GenePde4d
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids504 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3404939377 | 19 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110070447A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110070447A>C Locations: - p.Ser19Arg (Ensembl:ENSMUST00000117879) - c.55A>C (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3404939390 | 20 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110070450C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110070450C>G Locations: - p.Arg20Gly (Ensembl:ENSMUST00000117879) - c.58C>G (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3404939381 | 20 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000079.7:g.110070451G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110070451G>A Locations: - p.Arg20Gln (Ensembl:ENSMUST00000117879) - c.59G>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389303280 | 82 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110071981T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110071981T>C Locations: - p.Val82Ala (Ensembl:ENSMUST00000117879) - c.245T>C (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389300693 | 124 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110073304T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110073304T>A Locations: - p.Phe124Ile (Ensembl:ENSMUST00000117879) - c.370T>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389286225 | 137 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110074535T>A Codon: GTA/GAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110074535T>A Locations: - p.Val137Glu (Ensembl:ENSMUST00000117879) - c.410T>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389260294 | 150 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110074575T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110074575T>A Locations: - p.His150Gln (Ensembl:ENSMUST00000117879) - c.450T>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389304974 | 260 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110084912A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110084912A>G Locations: - p.Lys260Arg (Ensembl:ENSMUST00000117879) - c.779A>G (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389309737 | 268 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110085954G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110085954G>A Locations: - p.Ala268Thr (Ensembl:ENSMUST00000117879) - c.802G>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3404640214 | 270 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110085961A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110085961A>C Locations: - p.Asp270Ala (Ensembl:ENSMUST00000117879) - c.809A>C (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3403878407 | 271 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110085964T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110085964T>G Locations: - p.Met271Arg (Ensembl:ENSMUST00000117879) - c.812T>G (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3404416764 | 303 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110086060A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110086060A>T Locations: - p.Asp303Val (Ensembl:ENSMUST00000117879) - c.908A>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389299928 | 321 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110086785A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110086785A>C Locations: - p.Thr321Pro (Ensembl:ENSMUST00000117879) - c.961A>C (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389260236 | 368 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087465G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087465G>A Locations: - p.Val368Met (Ensembl:ENSMUST00000117879) - c.1102G>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389297877 | 393 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087541T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087541T>C Locations: - p.Ile393Thr (Ensembl:ENSMUST00000117879) - c.1178T>C (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389300742 | 403 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087571G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087571G>T Locations: - p.Trp403Leu (Ensembl:ENSMUST00000117879) - c.1208G>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389295860 | 409 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087588C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087588C>A Locations: - p.Pro409Thr (Ensembl:ENSMUST00000117879) - c.1225C>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389260251 | 437 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000079.7:g.110087674G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087674G>T Locations: - p.Glu437Asp (Ensembl:ENSMUST00000117879) - c.1311G>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389304984 | 440 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087682G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087682G>A Locations: - p.Cys440Tyr (Ensembl:ENSMUST00000117879) - c.1319G>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389299971 | 452 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087717G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087717G>T Locations: - p.Val452Leu (Ensembl:ENSMUST00000117879) - c.1354G>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389299971 | 452 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087717G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087717G>A Locations: - p.Val452Met (Ensembl:ENSMUST00000117879) - c.1354G>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389314293 | 462 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087748A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087748A>T Locations: - p.Lys462Met (Ensembl:ENSMUST00000117879) - c.1385A>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3403191024 | 469 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087769C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087769C>T Locations: - p.Ser469Leu (Ensembl:ENSMUST00000117879) - c.1406C>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389295900 | 475 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000079.7:g.110087787C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087787C>T Locations: - p.Pro475Leu (Ensembl:ENSMUST00000117879) - c.1424C>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389297811 | 488 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000079.7:g.110087827G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087827G>T Locations: - p.Glu488Asp (Ensembl:ENSMUST00000117879) - c.1464G>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs260629578 | 492 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000079.7:g.110087837C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087837C>T Locations: - p.Pro492Ser (Ensembl:ENSMUST00000117879) - c.1474C>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389299951 | 496 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000079.7:g.110087850T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087850T>C Locations: - p.Val496Ala (Ensembl:ENSMUST00000117879) - c.1487T>C (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389305150 | 500 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000079.7:g.110087862G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087862G>A Locations: - p.Cys500Tyr (Ensembl:ENSMUST00000117879) - c.1499G>A (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: | |||||||
rs3389305230 | 502 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000079.7:g.110087867C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 13q Genomic location: NC_000079.7:g.110087867C>T Locations: - p.Pro502Ser (Ensembl:ENSMUST00000117879) - c.1504C>T (Ensembl:ENSMUST00000117879) Source type: large scale study Cross-references: |