P39039 · MBL1_MOUSE
- ProteinMannose-binding protein A
- GeneMbl1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids239 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs51848293 | 15 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000080.7:g.40875592T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40875592T>G Locations: - p.Ser15Arg (Ensembl:ENSMUST00000225792) - c.45T>G (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs216633373 | 17 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000080.7:g.40875597C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40875597C>T Locations: - p.Ser17Phe (Ensembl:ENSMUST00000225792) - c.50C>T (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389327773 | 19 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000080.7:g.40875603C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40875603C>T Locations: - p.Ser19Leu (Ensembl:ENSMUST00000225792) - c.56C>T (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs49608493 | 23 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000080.7:g.40875614A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40875614A>G Locations: - p.Thr23Ala (Ensembl:ENSMUST00000225792) - c.67A>G (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3405084606 | 24 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000080.7:g.40875618_40875619insA Codon: TGT/TGAT Consequence type: stop gained Cytogenetic band: 14q Genomic location: NC_000080.7:g.40875618_40875619insA Locations: - p.Cys24Ter (Ensembl:ENSMUST00000225792) - c.71_72insA (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389315325 | 48 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40875690A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40875690A>C Locations: - p.Lys48Thr (Ensembl:ENSMUST00000225792) - c.143A>C (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389320648 | 64 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40876494A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40876494A>C Locations: - p.Lys64Thr (Ensembl:ENSMUST00000225792) - c.191A>C (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389321128 | 76 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000080.7:g.40876530G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40876530G>A Locations: - p.Ser76Asn (Ensembl:ENSMUST00000225792) - c.227G>A (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs227430903 | 77 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000080.7:g.40876532C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40876532C>T Locations: - p.Pro77Ser (Ensembl:ENSMUST00000225792) - c.229C>T (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389335948 | 97 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.40879120C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40879120C>T Locations: - p.Ala97Val (Ensembl:ENSMUST00000225792) - c.290C>T (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389285493 | 107 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.40879151A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40879151A>T Locations: - p.Lys107Asn (Ensembl:ENSMUST00000225792) - c.321A>T (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs251223843 | 138 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.93) Somatic: No Accession: NC_000080.7:g.40880525C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880525C>A Locations: - p.Pro138Thr (Ensembl:ENSMUST00000225792) - c.412C>A (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389275531 | 158 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000080.7:g.40880585A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880585A>G Locations: - p.Asn158Asp (Ensembl:ENSMUST00000225792) - c.472A>G (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389335925 | 164 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40880604C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880604C>G Locations: - p.Ala164Gly (Ensembl:ENSMUST00000225792) - c.491C>G (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs48828541 | 172 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.29) Somatic: No Accession: NC_000080.7:g.40880627A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880627A>G Locations: - p.Ile172Val (Ensembl:ENSMUST00000225792) - c.514A>G (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389323760 | 178 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40880646C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880646C>A Locations: - p.Thr178Lys (Ensembl:ENSMUST00000225792) - c.533C>A (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs247347590 | 181 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000080.7:g.40880655C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880655C>T Locations: - p.Ala181Val (Ensembl:ENSMUST00000225792) - c.542C>T (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: | |||||||
rs3389315296 | 228 | Q>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000080.7:g.40880796A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 14q Genomic location: NC_000080.7:g.40880796A>C Locations: - p.Gln228Pro (Ensembl:ENSMUST00000225792) - c.683A>C (Ensembl:ENSMUST00000225792) Source type: large scale study Cross-references: |