Q61129 · CFAI_MOUSE
- ProteinComplement factor I
- GeneCfi
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids603 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs239846450 | 21 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.76) Somatic: No Accession: NC_000069.7:g.129642208C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642208C>A Locations: - p.Pro21Thr (Ensembl:ENSMUST00000077918) - c.61C>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs255149365 | 23 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000069.7:g.129642214G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642214G>C Locations: - p.Ala23Pro (Ensembl:ENSMUST00000077918) - c.67G>C (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs30630687 | 28 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.05) Somatic: No Accession: NC_000069.7:g.129642229C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642229C>G Locations: - p.Gln28Glu (Ensembl:ENSMUST00000077918) - c.82C>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs262135856 | 47 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.37) Somatic: No Accession: NC_000069.7:g.129642286A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642286A>G Locations: - p.Asn47Asp (Ensembl:ENSMUST00000077918) - c.139A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388664825 | 48 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.129642290A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642290A>G Locations: - p.Lys48Arg (Ensembl:ENSMUST00000077918) - c.143A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388665078 | 68 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.129642351C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642351C>G Locations: - p.Tyr68Ter (Ensembl:ENSMUST00000077918) - c.204C>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs215482286 | 76 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000069.7:g.129642374C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642374C>A Locations: - p.Pro76Gln (Ensembl:ENSMUST00000077918) - c.227C>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs214584245 | 110 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.129642475G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129642475G>A Locations: - p.Ala110Thr (Ensembl:ENSMUST00000077918) - c.328G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388667030 | 115 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.129644349T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129644349T>C Locations: - p.Phe115Ser (Ensembl:ENSMUST00000077918) - c.344T>C (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs256180774 | 117 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_000069.7:g.129644354G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129644354G>A Locations: - p.Val117Ile (Ensembl:ENSMUST00000077918) - c.349G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs236200663 | 125 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.94) Somatic: No Accession: NC_000069.7:g.129644378A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129644378A>G Locations: - p.Lys125Glu (Ensembl:ENSMUST00000077918) - c.373A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs30630690 | 134 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.12) Somatic: No Accession: NC_000069.7:g.129644405C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129644405C>T Locations: - p.Leu134Phe (Ensembl:ENSMUST00000077918) - c.400C>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388665057 | 145 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.129644438A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.129644438A>T Locations: - p.Lys145Ter (Ensembl:ENSMUST00000077918) - c.433A>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs250104777 | 183 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.129648664G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648664G>A Locations: - p.Asp183Asn (Ensembl:ENSMUST00000077918) - c.547G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs222291414 | 188 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000069.7:g.129648679C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648679C>A Locations: - p.His188Asn (Ensembl:ENSMUST00000077918) - c.562C>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs253200084 | 204 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000069.7:g.129648728C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648728C>T Locations: - p.Thr204Met (Ensembl:ENSMUST00000077918) - c.611C>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs225362190 | 206 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.65) Somatic: No Accession: NC_000069.7:g.129648734G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648734G>A Locations: - p.Arg206Lys (Ensembl:ENSMUST00000077918) - c.617G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs16799499 | 208 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.58) Somatic: No Accession: NC_000069.7:g.129648740C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648740C>A Locations: - p.Thr208Asn (Ensembl:ENSMUST00000077918) - c.623C>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs16799497 | 210 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.129648746T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648746T>C Locations: - p.Leu210Ser (Ensembl:ENSMUST00000077918) - c.629T>C (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs16799495 | 212 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000069.7:g.129648751A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648751A>G Locations: - p.Asn212Asp (Ensembl:ENSMUST00000077918) - c.634A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3541847212 | 217 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.129648767T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129648767T>G Locations: - p.Val217Gly (Ensembl:ENSMUST00000077918) - c.650T>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs30628985 | 230 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000069.7:g.129652019T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129652019T>C Locations: - p.Leu230Pro (Ensembl:ENSMUST00000077918) - c.689T>C (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388653624 | 284 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000069.7:g.129652424A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129652424A>G Locations: - p.Asn284Asp (Ensembl:ENSMUST00000077918) - c.850A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388658470 | 304 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.129655626C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129655626C>G Locations: - p.Gln304Glu (Ensembl:ENSMUST00000077918) - c.910C>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs30991937 | 306 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.64) Somatic: No Accession: NC_000069.7:g.129655632A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129655632A>G Locations: - p.Ile306Val (Ensembl:ENSMUST00000077918) - c.916A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3393613790 | 311 | A>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.129655785C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129655785C>A Locations: - p.Ala311Glu (Ensembl:ENSMUST00000077918) - c.932C>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3393643982 | 312 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000069.7:g.129655788G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129655788G>T Locations: - p.Arg312Leu (Ensembl:ENSMUST00000077918) - c.935G>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs30631084 | 314 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000069.7:g.129655794C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129655794C>T Locations: - p.Ala314Val (Ensembl:ENSMUST00000077918) - c.941C>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs51165657 | 327 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.129659024G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129659024G>A Locations: - p.Met327Ile (Ensembl:ENSMUST00000077918) - c.981G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs51920137 | 334 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000069.7:g.129659044A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129659044A>T Locations: - p.Asn334Ile (Ensembl:ENSMUST00000077918) - c.1001A>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs226863635 | 362 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000069.7:g.129661936A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129661936A>G Locations: - p.Ile362Val (Ensembl:ENSMUST00000077918) - c.1084A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3393639053 | 398 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.129662215C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129662215C>T Locations: - p.Thr398Ile (Ensembl:ENSMUST00000077918) - c.1193C>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388664820 | 402 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.129662227G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129662227G>A Locations: - p.Cys402Tyr (Ensembl:ENSMUST00000077918) - c.1205G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs222024376 | 409 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000069.7:g.129666504A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129666504A>G Locations: - p.His409Arg (Ensembl:ENSMUST00000077918) - c.1226A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs258145761 | 444 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: NC_000069.7:g.129666608G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129666608G>A Locations: - p.Ala444Thr (Ensembl:ENSMUST00000077918) - c.1330G>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs16797796 | 482 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000069.7:g.129666723A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129666723A>G Locations: - p.Gln482Arg (Ensembl:ENSMUST00000077918) - c.1445A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs262597359 | 559 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000069.7:g.129668652C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 3q Genomic location: NC_000069.7:g.129668652C>A Locations: - p.Tyr559Ter (Ensembl:ENSMUST00000077918) - c.1677C>A (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3388663309 | 581 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.129668717G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129668717G>T Locations: - p.Arg581Ile (Ensembl:ENSMUST00000077918) - c.1742G>T (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs217697501 | 590 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000069.7:g.129668743A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.129668743A>G Locations: - p.Ser590Gly (Ensembl:ENSMUST00000077918) - c.1768A>G (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: | |||||||
rs3393577321 | 604 | *>E | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000069.7:g.129668785del Codon: TGA/GA Consequence type: stop lost Cytogenetic band: 3q Genomic location: NC_000069.7:g.129668785del Locations: - p.Ter604GlufsTer13 (Ensembl:ENSMUST00000077918) - c.1810del (Ensembl:ENSMUST00000077918) Source type: large scale study Cross-references: |