A0A338P6H5 · A0A338P6H5_MOUSE
- ProteinDiscs large MAGUK scaffold protein 4
- GeneDlg4
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids273 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389160317 | 51 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69921430G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69921430G>C Locations: - p.Val51Leu (Ensembl:ENSMUST00000231221) - c.151G>C (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389174005 | 116 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.69921934T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69921934T>C Locations: - p.Phe116Leu (Ensembl:ENSMUST00000231221) - c.346T>C (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389136996 | 126 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69921965C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69921965C>A Locations: - p.Thr126Asn (Ensembl:ENSMUST00000231221) - c.377C>A (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389172625 | 145 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000077.7:g.69922021G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922021G>A Locations: - p.Val145Ile (Ensembl:ENSMUST00000231221) - c.433G>A (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3402361608 | 156 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000077.7:g.69922056A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922056A>G Locations: - p.Ile156Met (Ensembl:ENSMUST00000231221) - c.468A>G (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389172856 | 165 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000077.7:g.69922083A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922083A>T Locations: - p.Lys165Asn (Ensembl:ENSMUST00000231221) - c.495A>T (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389178893 | 169 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69922190T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922190T>G Locations: - p.Phe169Cys (Ensembl:ENSMUST00000231221) - c.506T>G (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389172641 | 214 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.69922477A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922477A>G Locations: - p.Ser214Gly (Ensembl:ENSMUST00000231221) - c.640A>G (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389183355 | 222 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69922501C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922501C>T Locations: - p.His222Tyr (Ensembl:ENSMUST00000231221) - c.664C>T (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389184740 | 227 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.69922516G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922516G>T Locations: - p.Ala227Ser (Ensembl:ENSMUST00000231221) - c.679G>T (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389174062 | 236 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69922543G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922543G>A Locations: - p.Val236Met (Ensembl:ENSMUST00000231221) - c.706G>A (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389109278 | 254 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69922597C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922597C>T Locations: - p.Pro254Ser (Ensembl:ENSMUST00000231221) - c.760C>T (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: | |||||||
rs3389136977 | 262 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000077.7:g.69922621A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.69922621A>C Locations: - p.Ser262Arg (Ensembl:ENSMUST00000231221) - c.784A>C (Ensembl:ENSMUST00000231221) Source type: large scale study Cross-references: |