Q9JLQ0 · CD2AP_MOUSE
- ProteinCD2-associated protein
- GeneCd2ap
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids637 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389464677 | 17 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43163374T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43163374T>C Locations: - p.Glu17Gly (Ensembl:ENSMUST00000024709) - c.50A>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389413140 | 53 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43163265A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43163265A>C Locations: - p.Phe53Leu (Ensembl:ENSMUST00000024709) - c.159T>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs243995967 | 70 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.98) Somatic: No Accession: NC_000083.7:g.43156328T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43156328T>C Locations: - p.Ile70Val (Ensembl:ENSMUST00000024709) - c.208A>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389470606 | 117 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.43149663A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43149663A>T Locations: - p.Phe117Tyr (Ensembl:ENSMUST00000024709) - c.350T>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3407348313 | 124 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43149643C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43149643C>T Locations: - p.Glu124Lys (Ensembl:ENSMUST00000024709) - c.370G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389475650 | 141 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43145175A>G Codon: GTA/GCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43145175A>G Locations: - p.Val141Ala (Ensembl:ENSMUST00000024709) - c.422T>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389470649 | 146 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43145160C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43145160C>T Locations: - p.Trp146Ter (Ensembl:ENSMUST00000024709) - c.437G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389455087 | 169 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.93) Somatic: No Accession: NC_000083.7:g.43145090C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43145090C>G Locations: - p.Glu169Asp (Ensembl:ENSMUST00000024709) - c.507G>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs45681038 | 260 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000083.7:g.43137202T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43137202T>C Locations: - p.Thr260Ala (Ensembl:ENSMUST00000024709) - c.778A>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389458026 | 278 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43136799A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43136799A>G Locations: - p.Phe278Leu (Ensembl:ENSMUST00000024709) - c.832T>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389470657 | 330 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.43135385C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.43135385C>A Locations: - p.Glu330Ter (Ensembl:ENSMUST00000024709) - c.988G>T (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs242704376 | 355 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000083.7:g.43131530G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43131530G>A Locations: - p.Ser355Leu (Ensembl:ENSMUST00000024709) - c.1064C>T (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs244545180 | 394 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43127412C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127412C>G Locations: - p.Ala394Pro (Ensembl:ENSMUST00000024709) - c.1180G>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs223343099 | 399 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43127396C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127396C>T Locations: - p.Ser399Asn (Ensembl:ENSMUST00000024709) - c.1196G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs254089050 | 407 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: NC_000083.7:g.43127373C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127373C>T Locations: - p.Ala407Thr (Ensembl:ENSMUST00000024709) - c.1219G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3407702622 | 409 | Y>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000083.7:g.43127367A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127367A>C Locations: - p.Tyr409Asp (Ensembl:ENSMUST00000024709) - c.1225T>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs235186830 | 411 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43127360T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127360T>A Locations: - p.Lys411Met (Ensembl:ENSMUST00000024709) - c.1232A>T (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs235186830 | 411 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000083.7:g.43127360T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127360T>C Locations: - p.Lys411Arg (Ensembl:ENSMUST00000024709) - c.1232A>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs249160857 | 423 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000083.7:g.43127325C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43127325C>T Locations: - p.Ala423Thr (Ensembl:ENSMUST00000024709) - c.1267G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389464679 | 479 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000083.7:g.43119715G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43119715G>C Locations: - p.Asp479Glu (Ensembl:ENSMUST00000024709) - c.1437C>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389422733 | 488 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43119690G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43119690G>T Locations: - p.His488Asn (Ensembl:ENSMUST00000024709) - c.1462C>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389458315 | 535 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000083.7:g.43118834A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43118834A>T Locations: - p.Phe535Ile (Ensembl:ENSMUST00000024709) - c.1603T>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs50071400 | 545 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43116226A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43116226A>G Locations: - p.Ser545Pro (Ensembl:ENSMUST00000024709) - c.1633T>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs48838911 | 578 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000083.7:g.43116126C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43116126C>T Locations: - p.Arg578Lys (Ensembl:ENSMUST00000024709) - c.1733G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs240523678 | 581 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000083.7:g.43116118C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43116118C>T Locations: - p.Val581Met (Ensembl:ENSMUST00000024709) - c.1741G>A (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389458016 | 605 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43109544T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43109544T>C Locations: - p.Glu605Gly (Ensembl:ENSMUST00000024709) - c.1814A>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389479665 | 615 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000083.7:g.43109514T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43109514T>C Locations: - p.Glu615Gly (Ensembl:ENSMUST00000024709) - c.1844A>G (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389463815 | 616 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000083.7:g.43109510C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.43109510C>G Locations: - p.Glu616Asp (Ensembl:ENSMUST00000024709) - c.1848G>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: | |||||||
rs3389470660 | 638 | *>R | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000083.7:g.43107221A>G Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 17q Genomic location: NC_000083.7:g.43107221A>G Locations: - p.Ter638ArgextTer15 (Ensembl:ENSMUST00000024709) - c.1912T>C (Ensembl:ENSMUST00000024709) Source type: large scale study Cross-references: |