Q9QUK6 · TLR4_MOUSE
- ProteinToll-like receptor 4
- GeneTlr4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids835 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388689574 | 10 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000070.7:g.66746097C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66746097C>T Locations: - p.Thr10Ile (Ensembl:ENSMUST00000048096) - c.29C>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388689933 | 20 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.66746127T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66746127T>C Locations: - p.Leu20Pro (Ensembl:ENSMUST00000048096) - c.59T>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs13498470 | 69 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000070.7:g.66752246A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66752246A>G Locations: - p.Lys69Arg (Ensembl:ENSMUST00000048096) - c.206A>G (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388678413 | 90 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000070.7:g.66757477A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757477A>T Locations: - p.Glu90Val (Ensembl:ENSMUST00000048096) - c.269A>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
94 | D>N | strain: KK/HLJ (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 4q Genomic location: Locations: - p.Asp94Asn (UniProt:Q9QUK6) Source type: uniprot | |||||||
rs3394357633 | 124 | L>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.66757577_66757578insTAGGGTTT Codon: -/TAGGGTTT Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757577_66757578insTAGGGTTT Locations: - p.Leu124Ter (Ensembl:ENSMUST00000048096) - c.369_370insTAGGGTTT (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394414427 | 125 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.89) Somatic: No Accession: NC_000070.7:g.66757581A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757581A>T Locations: - p.Thr125Ser (Ensembl:ENSMUST00000048096) - c.373A>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394405549 | 145 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66757642T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757642T>A Locations: - p.Ile145Asn (Ensembl:ENSMUST00000048096) - c.434T>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs226397261 | 152 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66757663A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757663A>C Locations: - p.Lys152Thr (Ensembl:ENSMUST00000048096) - c.455A>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs213937739 | 160 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000070.7:g.66757687T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757687T>G Locations: - p.Phe160Cys (Ensembl:ENSMUST00000048096) - c.479T>G (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs27883166 | 160 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.66) Somatic: No Accession: NC_000070.7:g.66757686T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757686T>C Locations: - p.Phe160Leu (Ensembl:ENSMUST00000048096) - c.478T>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs13489091 | 171 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66757719T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757719T>C Locations: - p.Ser171Pro (Ensembl:ENSMUST00000048096) - c.511T>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs249194733 | 178 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000070.7:g.66757740C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757740C>T Locations: - p.His178Tyr (Ensembl:ENSMUST00000048096) - c.532C>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388692266 | 181 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000070.7:g.66757749C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757749C>G Locations: - p.Leu181Val (Ensembl:ENSMUST00000048096) - c.541C>G (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388692226 | 182 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.39) Somatic: No Accession: NC_000070.7:g.66757752T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757752T>A Locations: - p.Ser182Thr (Ensembl:ENSMUST00000048096) - c.544T>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394267664 | 183 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.66757755_66757756insGATTCTTTTTTTTTTTTTTCCC Codon: TAT/TGATTCTTTTTTTTTTTTTTCCCAT Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757755_66757756insGATTCTTTTTTTTTTTTTTCCC Locations: - p.Tyr183Ter (Ensembl:ENSMUST00000048096) - c.547_548insGATTCTTTTTTTTTTTTTTCCC (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs13489092 | 209 | M>I | strain: A/J, BALB/cJ, P/J, SODL/EI, SEA/GNJ, NZW/LACJ and VM/DK (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000070.7:g.66757835G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757835G>A Locations: - p.Met209Ile (Ensembl:ENSMUST00000048096) - c.627G>A (Ensembl:ENSMUST00000048096) - p.Met209Ile (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
rs252246126 | 216 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000070.7:g.66757855T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757855T>C Locations: - p.Phe216Ser (Ensembl:ENSMUST00000048096) - c.647T>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
219 | D>G | strain: SEA/GNJ (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 4q Genomic location: Locations: - p.Asp219Gly (UniProt:Q9QUK6) Source type: uniprot | |||||||
rs221009176 | 232 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66757902C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757902C>A Locations: - p.Leu232Ile (Ensembl:ENSMUST00000048096) - c.694C>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs13498475 | 252 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66757964A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757964A>T Locations: - p.Leu252Phe (Ensembl:ENSMUST00000048096) - c.756A>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs13489093 | 254 | V>I | strain: A/J, BALB/cJ and SEA/GNJ (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000070.7:g.66757968G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66757968G>A Locations: - p.Val254Ile (Ensembl:ENSMUST00000048096) - c.760G>A (Ensembl:ENSMUST00000048096) - p.Val254Ile (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
423 | Q>L | strain: SEA/GNJ (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 4q Genomic location: Locations: - p.Gln423Leu (UniProt:Q9QUK6) Source type: uniprot | |||||||
rs259037924 | 462 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000070.7:g.66758592G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66758592G>A Locations: - p.Asp462Asn (Ensembl:ENSMUST00000048096) - c.1384G>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
477 | A>S | strain: P/J (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 4q Genomic location: Locations: - p.Ala477Ser (UniProt:Q9QUK6) Source type: uniprot | |||||||
516 | T>A | strain: LP/J (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 4q Genomic location: Locations: - p.Thr516Ala (UniProt:Q9QUK6) Source type: uniprot | |||||||
rs3388686144 | 528 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66758791A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66758791A>T Locations: - p.Asn528Ile (Ensembl:ENSMUST00000048096) - c.1583A>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs264822519 | 546 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.47) Somatic: No Accession: NC_000070.7:g.66758845C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66758845C>T Locations: - p.Thr546Ile (Ensembl:ENSMUST00000048096) - c.1637C>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs27883164 | 593 | E>D | strain: A/J, BALB/cJ, P/J, SODL/EI, SEA/GNJ, NZW/LACJ and VM/DK (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.66758987A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66758987A>C Locations: - p.Glu593Asp (Ensembl:ENSMUST00000048096) - c.1779A>C (Ensembl:ENSMUST00000048096) - p.Glu593Asp (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
600 | N>I | strain: KK/HLJ (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 4q Genomic location: Locations: - p.Asn600Ile (UniProt:Q9QUK6) Source type: uniprot | |||||||
rs13489096 | 605 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000070.7:g.66759021A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759021A>G Locations: - p.Thr605Ala (Ensembl:ENSMUST00000048096) - c.1813A>G (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388692148 | 607 | A>V | strain: P/J (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000070.7:g.66759028C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759028C>T Locations: - p.Ala607Val (Ensembl:ENSMUST00000048096) - c.1820C>T (Ensembl:ENSMUST00000048096) - p.Ala607Val (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
rs1133271455 | 637 | V>I | strain: P/J (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000070.7:g.66759117G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759117G>A Locations: - p.Val637Ile (Ensembl:ENSMUST00000048096) - c.1909G>A (Ensembl:ENSMUST00000048096) - p.Val637Ile (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
rs215521323 | 668 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000070.7:g.66759211G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759211G>A Locations: - p.Gly668Glu (Ensembl:ENSMUST00000048096) - c.2003G>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388686612 | 684 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.66759260C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759260C>G Locations: - p.Asp684Glu (Ensembl:ENSMUST00000048096) - c.2052C>G (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3388686152 | 687 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000070.7:g.66759267A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759267A>G Locations: - p.Arg687Gly (Ensembl:ENSMUST00000048096) - c.2059A>G (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3023006 | 712 | P>H | Lps-tolerant mice (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66759343C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759343C>A Locations: - p.Pro712His (Ensembl:ENSMUST00000048096) - c.2135C>A (Ensembl:ENSMUST00000048096) - p.Pro712His (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
rs3394342529 | 725 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66759382T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759382T>A Locations: - p.Phe725Tyr (Ensembl:ENSMUST00000048096) - c.2174T>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394478061 | 727 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.66759389G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759389G>T Locations: - p.Lys727Asn (Ensembl:ENSMUST00000048096) - c.2181G>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394405544 | 728 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66759391G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759391G>A Locations: - p.Ser728Asn (Ensembl:ENSMUST00000048096) - c.2183G>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394478077 | 731 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000070.7:g.66759400T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759400T>C Locations: - p.Val731Ala (Ensembl:ENSMUST00000048096) - c.2192T>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3393829108 | 732 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000070.7:g.66759402A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759402A>C Locations: - p.Ile732Leu (Ensembl:ENSMUST00000048096) - c.2194A>C (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs4224524 | 733 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.66759405G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759405G>T Locations: - p.Val733Leu (Ensembl:ENSMUST00000048096) - c.2197G>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs3394405733 | 734 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.66759409T>A Codon: GTA/GAA Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759409T>A Locations: - p.Val734Glu (Ensembl:ENSMUST00000048096) - c.2201T>A (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: | |||||||
rs13489097 | 761 | R>H | strain: A/J, BALB/cJ, SODL/EI, SEA/GNJ, NZW/LACJ and VM/DK (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000070.7:g.66759490G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759490G>A Locations: - p.Arg761His (Ensembl:ENSMUST00000048096) - c.2282G>A (Ensembl:ENSMUST00000048096) - p.Arg761His (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
rs27883161 | 811 | N>K | strain: P/J (UniProt) | UniProt EVA | |||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.66759641T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759641T>G Locations: - p.Asn811Lys (Ensembl:ENSMUST00000048096) - c.2433T>G (Ensembl:ENSMUST00000048096) - p.Asn811Lys (UniProt:Q9QUK6) Source type: mixed Cross-references: | |||||||
rs1133000767 | 831 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000070.7:g.66759700C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.66759700C>T Locations: - p.Thr831Met (Ensembl:ENSMUST00000048096) - c.2492C>T (Ensembl:ENSMUST00000048096) Source type: large scale study Cross-references: |