E9Q907 · E9Q907_MOUSE
- ProteinCatenin delta 1
- GeneCtnnd1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids860 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388566742 | 10 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84451267G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84451267G>A Locations: - p.Thr10Ile (Ensembl:ENSMUST00000111676) - c.29C>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs13475342 | 21 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.84451235A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84451235A>T Locations: - p.Ser21Thr (Ensembl:ENSMUST00000111676) - c.61T>A (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388558828 | 61 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84450734C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84450734C>A Locations: - p.Gly61Val (Ensembl:ENSMUST00000111676) - c.182G>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388562309 | 118 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84450564C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84450564C>A Locations: - p.Asp118Tyr (Ensembl:ENSMUST00000111676) - c.352G>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388568433 | 145 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000068.8:g.84450482T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84450482T>A Locations: - p.Glu145Val (Ensembl:ENSMUST00000111676) - c.434A>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs579052998 | 198 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000068.8:g.84450324T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84450324T>G Locations: - p.Met198Leu (Ensembl:ENSMUST00000111676) - c.592A>C (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3391685294 | 212 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84450282C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84450282C>A Locations: - p.Asp212Tyr (Ensembl:ENSMUST00000111676) - c.634G>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388560591 | 214 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000068.8:g.84450275C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84450275C>G Locations: - p.Arg214Pro (Ensembl:ENSMUST00000111676) - c.641G>C (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388566581 | 233 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000068.8:g.84447244A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84447244A>G Locations: - p.Tyr233His (Ensembl:ENSMUST00000111676) - c.697T>C (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3391861703 | 264-265 | QP>LR | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.84447157_84447158insCCTTCAAACTGGAGACAGCCTGAGCTGCCTCCA Codon: AGA/AGGCAGCTCAGGCTGTCTCCAGTTTGAAGGTGGAGA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.84447157_84447158insCCTTCAAACTGGAGACAGCCTGAGCTGCCTCCA Locations: - p.Gln264_Pro265insLeuArgLeuSerProValTer (Ensembl:ENSMUST00000111676) - c.788_789insGCAGCTCAGGCTGTCTCCAGTTTGAAGGTGGAG (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388566613 | 285 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84447088C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84447088C>G Locations: - p.Ala285Pro (Ensembl:ENSMUST00000111676) - c.853G>C (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388560231 | 319 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84446986G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84446986G>A Locations: - p.Pro319Ser (Ensembl:ENSMUST00000111676) - c.955C>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388560575 | 336 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84446933A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84446933A>T Locations: - p.Phe336Leu (Ensembl:ENSMUST00000111676) - c.1008T>A (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388555650 | 368 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84446838G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84446838G>C Locations: - p.Thr368Ser (Ensembl:ENSMUST00000111676) - c.1103C>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388564052 | 422 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84445469A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84445469A>T Locations: - p.Trp422Arg (Ensembl:ENSMUST00000111676) - c.1264T>A (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388568478 | 423 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000068.8:g.84445464C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84445464C>A Locations: - p.Glu423Asp (Ensembl:ENSMUST00000111676) - c.1269G>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388561937 | 430 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000068.8:g.84445444G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84445444G>C Locations: - p.Ala430Gly (Ensembl:ENSMUST00000111676) - c.1289C>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3391783106 | 598 | A>C | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.84440984_84440985insTACATCCGCTCTGCTCTTCGTCAGGAGAAGGCTCTCTCTGCCATAGCTGAGCTCCTTACGAGTGAGCATGA Codon: TCT/TCATGCTCACTCGTAAGGAGCTCAGCTATGGCAGAGAGAGCCTTCTCCTGACGAAGAGCAGAGCGGATGTATCT Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.84440984_84440985insTACATCCGCTCTGCTCTTCGTCAGGAGAAGGCTCTCTCTGCCATAGCTGAGCTCCTTACGAGTGAGCATGA Locations: - p.Ala598CysfsTer16 (Ensembl:ENSMUST00000111676) - c.1790_1791insATGCTCACTCGTAAGGAGCTCAGCTATGGCAGAGAGAGCCTTCTCCTGACGAAGAGCAGAGCGGATGTATC (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388568407 | 601 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000068.8:g.84440971T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84440971T>C Locations: - p.Gln601Arg (Ensembl:ENSMUST00000111676) - c.1802A>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388561944 | 633 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84440875T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84440875T>C Locations: - p.Asp633Gly (Ensembl:ENSMUST00000111676) - c.1898A>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388558786 | 643 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000068.8:g.84440061G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84440061G>A Locations: - p.His643Tyr (Ensembl:ENSMUST00000111676) - c.1927C>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3391829778 | 654 | G>E | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.84440030_84440031insACCTTTTCTTTTACTGCTGTAGGCAAGCATGCTATTCCTAACTTGGTAAAGAATCTGCCAGGAGGTCAACAGAACTCCG Codon: CCA/CCGGAGTTCTGTTGACCTCCTGGCAGATTCTTTACCAAGTTAGGAATAGCATGCTTGCCTACAGCAGTAAAAGAAAAGGTCA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.84440030_84440031insACCTTTTCTTTTACTGCTGTAGGCAAGCATGCTATTCCTAACTTGGTAAAGAATCTGCCAGGAGGTCAACAGAACTCCG Locations: - p.Gly654GlufsTer4 (Ensembl:ENSMUST00000111676) - c.1958_1959insGGAGTTCTGTTGACCTCCTGGCAGATTCTTTACCAAGTTAGGAATAGCATGCTTGCCTACAGCAGTAAAAGAAAAGGTC (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388561945 | 657 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.84440019G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.84440019G>A Locations: - p.Gln657Ter (Ensembl:ENSMUST00000111676) - c.1969C>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388564323 | 675 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84439965T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439965T>A Locations: - p.Ile675Phe (Ensembl:ENSMUST00000111676) - c.2023A>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3391750928 | 680 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000068.8:g.84439949G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439949G>A Locations: - p.Ala680Val (Ensembl:ENSMUST00000111676) - c.2039C>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388564289 | 684 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84439937T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439937T>C Locations: - p.Glu684Gly (Ensembl:ENSMUST00000111676) - c.2051A>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388568455 | 687 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.84439929T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439929T>A Locations: - p.Lys687Ter (Ensembl:ENSMUST00000111676) - c.2059A>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388565161 | 688 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84439925T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439925T>C Locations: - p.Lys688Arg (Ensembl:ENSMUST00000111676) - c.2063A>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388560295 | 717 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84439383A>C Codon: CTT/CGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439383A>C Locations: - p.Leu717Arg (Ensembl:ENSMUST00000111676) - c.2150T>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388562293 | 742 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000068.8:g.84439309A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84439309A>C Locations: - p.Phe742Val (Ensembl:ENSMUST00000111676) - c.2224T>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388558852 | 790 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000068.8:g.84435539G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84435539G>A Locations: - p.Thr790Ile (Ensembl:ENSMUST00000111676) - c.2369C>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388560256 | 827 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000068.8:g.84433996C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84433996C>G Locations: - p.Leu827Phe (Ensembl:ENSMUST00000111676) - c.2481G>C (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388564369 | 828 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000068.8:g.84433995T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84433995T>A Locations: - p.Met828Leu (Ensembl:ENSMUST00000111676) - c.2482A>T (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs221736211 | 844 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000068.8:g.84433573C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.84433573C>T Locations: - p.Val844Ile (Ensembl:ENSMUST00000111676) - c.2530G>A (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: | |||||||
rs3388561906 | 861 | *>W | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000068.8:g.84433237T>C Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: 2q Genomic location: NC_000068.8:g.84433237T>C Locations: - p.Ter861TrpextTer23 (Ensembl:ENSMUST00000111676) - c.2582A>G (Ensembl:ENSMUST00000111676) Source type: large scale study Cross-references: |