Q9JKC7 · AP4M1_MOUSE
- ProteinAP-4 complex subunit mu-1
- GeneAp4m1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids449 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388808983 | 29 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.138170638T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138170638T>G Locations: - p.Val29Gly (Ensembl:ENSMUST00000019662) - c.86T>G (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388803661 | 44 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000071.7:g.138170682G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138170682G>A Locations: - p.Glu44Lys (Ensembl:ENSMUST00000019662) - c.130G>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388791609 | 51 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000071.7:g.138171054C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138171054C>A Locations: - p.His51Gln (Ensembl:ENSMUST00000019662) - c.153C>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388809012 | 60 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000071.7:g.138171080G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138171080G>A Locations: - p.Arg60Lys (Ensembl:ENSMUST00000019662) - c.179G>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388799069 | 61 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.138171082C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138171082C>T Locations: - p.His61Tyr (Ensembl:ENSMUST00000019662) - c.181C>T (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388797910 | 68 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000071.7:g.138171103G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138171103G>T Locations: - p.Ala68Ser (Ensembl:ENSMUST00000019662) - c.202G>T (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs244108740 | 71 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: NC_000071.7:g.138171113T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138171113T>C Locations: - p.Leu71Ser (Ensembl:ENSMUST00000019662) - c.212T>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388788378 | 118 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.138173013A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138173013A>T Locations: - p.Asp118Val (Ensembl:ENSMUST00000019662) - c.353A>T (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388793708 | 155 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000071.7:g.138173207T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138173207T>A Locations: - p.Phe155Tyr (Ensembl:ENSMUST00000019662) - c.464T>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388793769 | 171 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000071.7:g.138173255G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138173255G>T Locations: - p.Ser171Ile (Ensembl:ENSMUST00000019662) - c.512G>T (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388797862 | 172 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.138173258G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138173258G>C Locations: - p.Arg172Pro (Ensembl:ENSMUST00000019662) - c.515G>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388797898 | 172 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.138173257C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138173257C>A Locations: - p.Arg172Ser (Ensembl:ENSMUST00000019662) - c.514C>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388805334 | 290 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000071.7:g.138175112C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175112C>A Locations: - p.Leu290Ile (Ensembl:ENSMUST00000019662) - c.868C>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388793752 | 290 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.138175113T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175113T>C Locations: - p.Leu290Pro (Ensembl:ENSMUST00000019662) - c.869T>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388807470 | 292 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.138175119C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175119C>A Locations: - p.Ser292Ter (Ensembl:ENSMUST00000019662) - c.875C>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388793689 | 292 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.138175118T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175118T>C Locations: - p.Ser292Pro (Ensembl:ENSMUST00000019662) - c.874T>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388801917 | 295 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.138175127C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175127C>A Locations: - p.Pro295Thr (Ensembl:ENSMUST00000019662) - c.883C>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388807446 | 304 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.138175154T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175154T>C Locations: - p.Trp304Arg (Ensembl:ENSMUST00000019662) - c.910T>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388801640 | 319 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000071.7:g.138175445T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 5q Genomic location: NC_000071.7:g.138175445T>A Locations: - p.Cys319Ter (Ensembl:ENSMUST00000019662) - c.957T>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388797830 | 348 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.138176348G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176348G>T Locations: - p.Ser348Ile (Ensembl:ENSMUST00000019662) - c.1043G>T (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388809002 | 377 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000071.7:g.138176435T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176435T>C Locations: - p.Leu377Pro (Ensembl:ENSMUST00000019662) - c.1130T>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3396260913 | 381 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000071.7:g.138176544T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176544T>A Locations: - p.Asp381Glu (Ensembl:ENSMUST00000019662) - c.1143T>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3396325360 | 388 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000071.7:g.138176564T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176564T>A Locations: - p.Leu388His (Ensembl:ENSMUST00000019662) - c.1163T>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs250616888 | 390 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.75) Somatic: No Accession: NC_000071.7:g.138176570A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176570A>G Locations: - p.Asn390Ser (Ensembl:ENSMUST00000019662) - c.1169A>G (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388783215 | 396 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000071.7:g.138176587T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176587T>A Locations: - p.Leu396Met (Ensembl:ENSMUST00000019662) - c.1186T>A (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388791620 | 425 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000071.7:g.138176674A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176674A>C Locations: - p.Ser425Arg (Ensembl:ENSMUST00000019662) - c.1273A>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388804110 | 427 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000071.7:g.138176680T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176680T>C Locations: - p.Cys427Arg (Ensembl:ENSMUST00000019662) - c.1279T>C (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: | |||||||
rs3388801878 | 434 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000071.7:g.138176701A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 5q Genomic location: NC_000071.7:g.138176701A>G Locations: - p.Lys434Glu (Ensembl:ENSMUST00000019662) - c.1300A>G (Ensembl:ENSMUST00000019662) Source type: large scale study Cross-references: |