P49183 · DNAS1_MOUSE
- ProteinDeoxyribonuclease-1
- GeneDnase1
- 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 | ||
---|---|---|---|---|---|---|---|
rs256503092 | 14 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000082.7:g.3855454G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3855454G>A Locations: - p.Val14Ile (Ensembl:ENSMUST00000006136) - c.40G>A (Ensembl:ENSMUST00000006136) - p.Val14Ile (Ensembl:ENSMUST00000120009) - c.40G>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs225544180 | 18 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000082.7:g.3855467A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3855467A>G Locations: - p.Gln18Arg (Ensembl:ENSMUST00000006136) - c.53A>G (Ensembl:ENSMUST00000006136) - p.Gln18Arg (Ensembl:ENSMUST00000120009) - c.53A>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389397056 | 35 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3855517G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3855517G>A Locations: - p.Glu35Lys (Ensembl:ENSMUST00000006136) - c.103G>A (Ensembl:ENSMUST00000006136) - p.Glu35Lys (Ensembl:ENSMUST00000120009) - c.103G>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389397037 | 57 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.98) Somatic: No Accession: NC_000082.7:g.3855840C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3855840C>T Locations: - p.Ala57Val (Ensembl:ENSMUST00000006136) - c.170C>T (Ensembl:ENSMUST00000006136) - p.Ala57Val (Ensembl:ENSMUST00000120009) - c.170C>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389388972 | 61 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3855853G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3855853G>C Locations: - p.Glu61Asp (Ensembl:ENSMUST00000006136) - c.183G>C (Ensembl:ENSMUST00000006136) - p.Glu61Asp (Ensembl:ENSMUST00000120009) - c.183G>C (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs253916483 | 65 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000082.7:g.3855863T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3855863T>A Locations: - p.Ser65Thr (Ensembl:ENSMUST00000006136) - c.193T>A (Ensembl:ENSMUST00000006136) - p.Ser65Thr (Ensembl:ENSMUST00000120009) - c.193T>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389393675 | 117 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3856409A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856409A>G Locations: - p.Tyr117Cys (Ensembl:ENSMUST00000006136) - c.350A>G (Ensembl:ENSMUST00000006136) - p.Tyr117Cys (Ensembl:ENSMUST00000120009) - c.350A>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389358545 | 120 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000082.7:g.3856419T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856419T>A Locations: - p.Asp120Glu (Ensembl:ENSMUST00000006136) - c.360T>A (Ensembl:ENSMUST00000006136) - p.Asp120Glu (Ensembl:ENSMUST00000120009) - c.360T>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389390880 | 148 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000082.7:g.3856813A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856813A>C Locations: - p.Gln148Pro (Ensembl:ENSMUST00000006136) - c.443A>C (Ensembl:ENSMUST00000006136) - p.Gln148Pro (Ensembl:ENSMUST00000120009) - c.443A>C (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs236253218 | 149 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3856816A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856816A>T Locations: - p.Glu149Val (Ensembl:ENSMUST00000006136) - c.446A>T (Ensembl:ENSMUST00000006136) - p.Glu149Val (Ensembl:ENSMUST00000120009) - c.446A>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389312270 | 162 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3856855C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856855C>A Locations: - p.Ala162Asp (Ensembl:ENSMUST00000006136) - c.485C>A (Ensembl:ENSMUST00000006136) - p.Ala162Asp (Ensembl:ENSMUST00000120009) - c.485C>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs245567561 | 167 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000082.7:g.3856869G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856869G>A Locations: - p.Asp167Asn (Ensembl:ENSMUST00000006136) - c.499G>A (Ensembl:ENSMUST00000006136) - p.Asp167Asn (Ensembl:ENSMUST00000120009) - c.499G>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389388975 | 175 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.3856894A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856894A>G Locations: - p.Asp175Gly (Ensembl:ENSMUST00000006136) - c.524A>G (Ensembl:ENSMUST00000006136) - p.Asp175Gly (Ensembl:ENSMUST00000120009) - c.524A>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389367190 | 175 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000082.7:g.3856893G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856893G>C Locations: - p.Asp175His (Ensembl:ENSMUST00000006136) - c.523G>C (Ensembl:ENSMUST00000006136) - p.Asp175His (Ensembl:ENSMUST00000120009) - c.523G>C (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389405984 | 179 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000082.7:g.3856907G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856907G>T Locations: - p.Lys179Asn (Ensembl:ENSMUST00000006136) - c.537G>T (Ensembl:ENSMUST00000006136) - p.Lys179Asn (Ensembl:ENSMUST00000120009) - c.537G>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389367227 | 183 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3856918A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3856918A>G Locations: - p.Glu183Gly (Ensembl:ENSMUST00000006136) - c.548A>G (Ensembl:ENSMUST00000006136) - p.Glu183Gly (Ensembl:ENSMUST00000120009) - c.548A>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389367172 | 194 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000082.7:g.3857025G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857025G>A Locations: - p.Gly194Asp (Ensembl:ENSMUST00000006136) - c.581G>A (Ensembl:ENSMUST00000006136) - p.Gly194Asp (Ensembl:ENSMUST00000120009) - c.581G>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389390873 | 216 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.3857091G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857091G>T Locations: - p.Trp216Leu (Ensembl:ENSMUST00000006136) - c.647G>T (Ensembl:ENSMUST00000006136) - p.Trp216Leu (Ensembl:ENSMUST00000120009) - c.647G>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389389018 | 239 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000082.7:g.3857420C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857420C>T Locations: - p.Ala239Val (Ensembl:ENSMUST00000006136) - c.716C>T (Ensembl:ENSMUST00000006136) - p.Ala239Val (Ensembl:ENSMUST00000120009) - c.716C>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389403043 | 240 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000082.7:g.3857422G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857422G>T Locations: - p.Gly240Ter (Ensembl:ENSMUST00000006136) - c.718G>T (Ensembl:ENSMUST00000006136) - p.Gly240Ter (Ensembl:ENSMUST00000120009) - c.718G>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3406670814 | 242 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.57) Somatic: No Accession: NC_000082.7:g.3857429T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857429T>A Locations: - p.Leu242Gln (Ensembl:ENSMUST00000006136) - c.725T>A (Ensembl:ENSMUST00000006136) - p.Leu242Gln (Ensembl:ENSMUST00000120009) - c.725T>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3405648476 | 242 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000082.7:g.3857428C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857428C>G Locations: - p.Leu242Val (Ensembl:ENSMUST00000006136) - c.724C>G (Ensembl:ENSMUST00000006136) - p.Leu242Val (Ensembl:ENSMUST00000120009) - c.724C>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389412633 | 255 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000082.7:g.3857467T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857467T>G Locations: - p.Phe255Val (Ensembl:ENSMUST00000006136) - c.763T>G (Ensembl:ENSMUST00000006136) - p.Phe255Val (Ensembl:ENSMUST00000120009) - c.763T>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs13473196 | 262 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000082.7:g.3857488G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857488G>A Locations: - p.Gly262Arg (Ensembl:ENSMUST00000006136) - c.784G>A (Ensembl:ENSMUST00000006136) - p.Gly262Arg (Ensembl:ENSMUST00000120009) - c.784G>A (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs3389393712 | 269 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.3857681A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857681A>T Locations: - p.Glu269Asp (Ensembl:ENSMUST00000006136) - c.807A>T (Ensembl:ENSMUST00000006136) - p.Glu269Asp (Ensembl:ENSMUST00000120009) - c.807A>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs240340759 | 280 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000082.7:g.3857712A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857712A>T Locations: - p.Thr280Ser (Ensembl:ENSMUST00000006136) - c.838A>T (Ensembl:ENSMUST00000006136) - p.Thr280Ser (Ensembl:ENSMUST00000120009) - c.838A>T (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: | |||||||
rs257408268 | 283 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000082.7:g.3857721A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.3857721A>G Locations: - p.Lys283Glu (Ensembl:ENSMUST00000006136) - c.847A>G (Ensembl:ENSMUST00000006136) - p.Lys283Glu (Ensembl:ENSMUST00000120009) - c.847A>G (Ensembl:ENSMUST00000120009) Source type: large scale study Cross-references: |