Q9Z0T9 · ITB6_MOUSE
- ProteinIntegrin beta-6
- GeneItgb6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids787 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388550431 | 5 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.60503794G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60503794G>T Locations: - p.Leu5Met (Ensembl:ENSMUST00000059888) - c.13C>A (Ensembl:ENSMUST00000059888) - p.Leu5Met (Ensembl:ENSMUST00000028348) - c.13C>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388554176 | 16 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000068.8:g.60503759A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60503759A>T Locations: - p.Asn16Lys (Ensembl:ENSMUST00000059888) - c.48T>A (Ensembl:ENSMUST00000059888) - p.Asn16Lys (Ensembl:ENSMUST00000028348) - c.48T>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs28025116 | 82 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.60499548T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60499548T>C Locations: - p.Ile82Val (Ensembl:ENSMUST00000059888) - c.244A>G (Ensembl:ENSMUST00000059888) - p.Ile82Val (Ensembl:ENSMUST00000028348) - c.244A>G (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388549070 | 98 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.60499500T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60499500T>A Locations: - p.Ser98Cys (Ensembl:ENSMUST00000059888) - c.292A>T (Ensembl:ENSMUST00000059888) - p.Ser98Cys (Ensembl:ENSMUST00000028348) - c.292A>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs254367464 | 117 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000068.8:g.60498876G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60498876G>C Locations: - p.Arg117Gly (Ensembl:ENSMUST00000059888) - c.349C>G (Ensembl:ENSMUST00000059888) - p.Arg117Gly (Ensembl:ENSMUST00000028348) - c.349C>G (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388554184 | 133 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60498827A>T Codon: GTA/GAA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60498827A>T Locations: - p.Val133Glu (Ensembl:ENSMUST00000059888) - c.398T>A (Ensembl:ENSMUST00000059888) - p.Val133Glu (Ensembl:ENSMUST00000028348) - c.398T>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388556154 | 170 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60498716A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60498716A>T Locations: - p.Phe170Tyr (Ensembl:ENSMUST00000059888) - c.509T>A (Ensembl:ENSMUST00000059888) - p.Phe170Tyr (Ensembl:ENSMUST00000028348) - c.509T>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3391650347 | 240 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.60485024C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.60485024C>A Locations: - p.Glu240Ter (Ensembl:ENSMUST00000059888) - c.718G>T (Ensembl:ENSMUST00000059888) - p.Glu240Ter (Ensembl:ENSMUST00000028348) - c.718G>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3391650291 | 240 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60485023T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60485023T>G Locations: - p.Glu240Ala (Ensembl:ENSMUST00000059888) - c.719A>C (Ensembl:ENSMUST00000059888) - p.Glu240Ala (Ensembl:ENSMUST00000028348) - c.719A>C (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388553572 | 252 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60484988A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60484988A>T Locations: - p.Cys252Ser (Ensembl:ENSMUST00000059888) - c.754T>A (Ensembl:ENSMUST00000059888) - p.Cys252Ser (Ensembl:ENSMUST00000028348) - c.754T>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388546707 | 297 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.60483518G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60483518G>A Locations: - p.His297Tyr (Ensembl:ENSMUST00000059888) - c.889C>T (Ensembl:ENSMUST00000059888) - p.His297Tyr (Ensembl:ENSMUST00000028348) - c.889C>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs28025203 | 302 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.60483503A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60483503A>C Locations: - p.Ser302Ala (Ensembl:ENSMUST00000059888) - c.904T>G (Ensembl:ENSMUST00000059888) - p.Ser302Ala (Ensembl:ENSMUST00000028348) - c.904T>G (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388555329 | 320 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000068.8:g.60480377C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60480377C>T Locations: - p.Val320Ile (Ensembl:ENSMUST00000059888) - c.958G>A (Ensembl:ENSMUST00000059888) - p.Val320Ile (Ensembl:ENSMUST00000028348) - c.958G>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs28025234 | 324 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.60480365C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60480365C>T Locations: - p.Val324Met (Ensembl:ENSMUST00000059888) - c.970G>A (Ensembl:ENSMUST00000059888) - p.Val324Met (Ensembl:ENSMUST00000028348) - c.970G>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388550402 | 330 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60480346A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60480346A>G Locations: - p.Val330Ala (Ensembl:ENSMUST00000059888) - c.989T>C (Ensembl:ENSMUST00000059888) - p.Val330Ala (Ensembl:ENSMUST00000028348) - c.989T>C (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388554092 | 339 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.60480320C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60480320C>T Locations: - p.Glu339Lys (Ensembl:ENSMUST00000059888) - c.1015G>A (Ensembl:ENSMUST00000059888) - p.Glu339Lys (Ensembl:ENSMUST00000028348) - c.1015G>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3391708004 | 372 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60458807G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458807G>A Locations: - p.Arg372Trp (Ensembl:ENSMUST00000059888) - c.1114C>T (Ensembl:ENSMUST00000059888) - p.Arg372Trp (Ensembl:ENSMUST00000028348) - c.1114C>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388546777 | 396 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60458734T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458734T>A Locations: - p.Asn396Ile (Ensembl:ENSMUST00000059888) - c.1187A>T (Ensembl:ENSMUST00000059888) - p.Asn396Ile (Ensembl:ENSMUST00000028348) - c.1187A>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388554147 | 426 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000068.8:g.60458475_60458476del Codon: TGTGAG/TGAG Consequence type: stop gained Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458475_60458476del Locations: - p.Cys426Ter (Ensembl:ENSMUST00000059888) - c.1278_1279del (Ensembl:ENSMUST00000059888) - p.Cys426Ter (Ensembl:ENSMUST00000028348) - c.1278_1279del (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388557444 | 440 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.60458434G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458434G>T Locations: - p.Leu440Met (Ensembl:ENSMUST00000059888) - c.1318C>A (Ensembl:ENSMUST00000059888) - p.Leu440Met (Ensembl:ENSMUST00000028348) - c.1318C>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388555351 | 464 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60458361C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458361C>A Locations: - p.Ser464Ile (Ensembl:ENSMUST00000059888) - c.1391G>T (Ensembl:ENSMUST00000059888) - p.Ser464Ile (Ensembl:ENSMUST00000028348) - c.1391G>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs238789873 | 480 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000068.8:g.60458314T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458314T>C Locations: - p.Thr480Ala (Ensembl:ENSMUST00000059888) - c.1438A>G (Ensembl:ENSMUST00000059888) - p.Thr480Ala (Ensembl:ENSMUST00000028348) - c.1438A>G (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388553634 | 480 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000068.8:g.60458313G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458313G>A Locations: - p.Thr480Ile (Ensembl:ENSMUST00000059888) - c.1439C>T (Ensembl:ENSMUST00000059888) - p.Thr480Ile (Ensembl:ENSMUST00000028348) - c.1439C>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs258059749 | 499 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000068.8:g.60458256G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458256G>A Locations: - p.Thr499Met (Ensembl:ENSMUST00000059888) - c.1496C>T (Ensembl:ENSMUST00000059888) - p.Thr499Met (Ensembl:ENSMUST00000028348) - c.1496C>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs28040635 | 500 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000068.8:g.60458254C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458254C>T Locations: - p.Asp500Asn (Ensembl:ENSMUST00000059888) - c.1498G>A (Ensembl:ENSMUST00000059888) - p.Asp500Asn (Ensembl:ENSMUST00000028348) - c.1498G>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3540347900 | 506 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000068.8:g.60458235G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458235G>A Locations: - p.Pro506Leu (Ensembl:ENSMUST00000059888) - c.1517C>T (Ensembl:ENSMUST00000059888) - p.Pro506Leu (Ensembl:ENSMUST00000028348) - c.1517C>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388550469 | 510 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000068.8:g.60458224A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458224A>C Locations: - p.Ser510Ala (Ensembl:ENSMUST00000059888) - c.1528T>G (Ensembl:ENSMUST00000059888) - p.Ser510Ala (Ensembl:ENSMUST00000028348) - c.1528T>G (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388553655 | 550 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.60458104G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60458104G>A Locations: - p.Leu550Phe (Ensembl:ENSMUST00000059888) - c.1648C>T (Ensembl:ENSMUST00000059888) - p.Leu550Phe (Ensembl:ENSMUST00000028348) - c.1648C>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388558363 | 574 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000068.8:g.60450717C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60450717C>T Locations: - p.Cys574Tyr (Ensembl:ENSMUST00000059888) - c.1721G>A (Ensembl:ENSMUST00000059888) - p.Cys574Tyr (Ensembl:ENSMUST00000028348) - c.1721G>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388554076 | 614 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.60450598A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60450598A>G Locations: - p.Cys614Arg (Ensembl:ENSMUST00000059888) - c.1840T>C (Ensembl:ENSMUST00000059888) - p.Cys614Arg (Ensembl:ENSMUST00000028348) - c.1840T>C (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388553740 | 698 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.60441716T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60441716T>C Locations: - p.Glu698Gly (Ensembl:ENSMUST00000059888) - c.2093A>G (Ensembl:ENSMUST00000059888) - p.Glu698Gly (Ensembl:ENSMUST00000028348) - c.2093A>G (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3540357562 | 723 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.60435582C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60435582C>G Locations: - p.Val723Leu (Ensembl:ENSMUST00000059888) - c.2167G>C (Ensembl:ENSMUST00000059888) - p.Val723Leu (Ensembl:ENSMUST00000028348) - c.2167G>C (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3391645951 | 772 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.60430879T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60430879T>A Locations: - p.Thr772Ser (Ensembl:ENSMUST00000059888) - c.2314A>T (Ensembl:ENSMUST00000059888) - p.Thr772Ser (Ensembl:ENSMUST00000028348) - c.2314A>T (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: | |||||||
rs3388557516 | 775 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000068.8:g.60430870G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.60430870G>T Locations: - p.His775Asn (Ensembl:ENSMUST00000059888) - c.2323C>A (Ensembl:ENSMUST00000059888) - p.His775Asn (Ensembl:ENSMUST00000028348) - c.2323C>A (Ensembl:ENSMUST00000028348) Source type: large scale study Cross-references: |