Q9JM05 · PIAS4_MOUSE
- ProteinE3 SUMO-protein ligase PIAS4
- GenePias4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids507 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3401375066 | 70 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000076.7:g.80999842A>T Codon: AGT/AGA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80999842A>T Locations: - p.Ser70Arg (Ensembl:ENSMUST00000005064) - c.210T>A (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3413085468 | 76 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000076.7:g.80999825T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80999825T>A Locations: - p.Gln76Leu (Ensembl:ENSMUST00000005064) - c.227A>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389127634 | 93 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000076.7:g.80999775G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80999775G>A Locations: - p.Pro93Ser (Ensembl:ENSMUST00000005064) - c.277C>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389089415 | 112 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000076.7:g.80999717A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80999717A>T Locations: - p.Leu112Gln (Ensembl:ENSMUST00000005064) - c.335T>A (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389118735 | 126 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000076.7:g.80999676G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80999676G>T Locations: - p.Leu126Met (Ensembl:ENSMUST00000005064) - c.376C>A (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389127613 | 151 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80993833T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80993833T>A Locations: - p.Lys151Met (Ensembl:ENSMUST00000005064) - c.452A>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389089387 | 193 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000076.7:g.80993345T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80993345T>A Locations: - p.Thr193Ser (Ensembl:ENSMUST00000005064) - c.577A>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389116149 | 220 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000076.7:g.80993182T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80993182T>A Locations: - p.Tyr220Phe (Ensembl:ENSMUST00000005064) - c.659A>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389114890 | 225 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000076.7:g.80993168G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80993168G>A Locations: - p.Pro225Ser (Ensembl:ENSMUST00000005064) - c.673C>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs13470694 | 230 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80993151C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80993151C>A Locations: - p.Lys230Asn (Ensembl:ENSMUST00000005064) - c.690G>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389089376 | 253 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000076.7:g.80993084C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80993084C>T Locations: - p.Val253Ile (Ensembl:ENSMUST00000005064) - c.757G>A (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389116230 | 262 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000076.7:g.80992946_80992947insC Codon: TAC/TAGC Consequence type: stop gained Cytogenetic band: 10q Genomic location: NC_000076.7:g.80992946_80992947insC Locations: - p.Tyr262Ter (Ensembl:ENSMUST00000005064) - c.785_786insG (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389093777 | 300 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80991729G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80991729G>A Locations: - p.Leu300Phe (Ensembl:ENSMUST00000005064) - c.898C>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389121674 | 308 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80991704A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80991704A>G Locations: - p.Ile308Thr (Ensembl:ENSMUST00000005064) - c.923T>C (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389125212 | 309 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80991701G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80991701G>A Locations: - p.Ala309Val (Ensembl:ENSMUST00000005064) - c.926C>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389093840 | 310 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80991698G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80991698G>T Locations: - p.Thr310Asn (Ensembl:ENSMUST00000005064) - c.929C>A (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3389082804 | 319 | C>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.80991672A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80991672A>C Locations: - p.Cys319Gly (Ensembl:ENSMUST00000005064) - c.955T>G (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs246269179 | 443 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000076.7:g.80990132T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80990132T>C Locations: - p.Ser443Gly (Ensembl:ENSMUST00000005064) - c.1327A>G (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: | |||||||
rs3507947878 | 447 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.80990120C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.80990120C>A Locations: - p.Gly447Cys (Ensembl:ENSMUST00000005064) - c.1339G>T (Ensembl:ENSMUST00000005064) Source type: large scale study Cross-references: |