P10126 · EF1A1_MOUSE
- ProteinElongation factor 1-alpha 1
- GeneEef1a1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids462 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3547398854 | 6 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000075.7:g.78387920G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387920G>A Locations: - p.Thr6Ile (Ensembl:ENSMUST00000042235) - c.17C>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389053746 | 7 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387917T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387917T>A Locations: - p.His7Leu (Ensembl:ENSMUST00000042235) - c.20A>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547395085 | 11 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000075.7:g.78387906C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387906C>T Locations: - p.Val11Ile (Ensembl:ENSMUST00000042235) - c.31G>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389057976 | 13 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.78387899A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387899A>G Locations: - p.Ile13Thr (Ensembl:ENSMUST00000042235) - c.38T>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547357257 | 15 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387893T>A Codon: CAC/CTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387893T>A Locations: - p.His15Leu (Ensembl:ENSMUST00000042235) - c.44A>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547373790 | 19 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387882C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387882C>A Locations: - p.Gly19Cys (Ensembl:ENSMUST00000042235) - c.55G>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs13470327 | 22 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387873T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387873T>A Locations: - p.Thr22Ser (Ensembl:ENSMUST00000042235) - c.64A>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547357234 | 23 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000075.7:g.78387870T>A Codon: ACA/TCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387870T>A Locations: - p.Thr23Ser (Ensembl:ENSMUST00000042235) - c.67A>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs13470349 | 33 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000075.7:g.78387840C>G Codon: GGA/CGA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387840C>G Locations: - p.Gly33Arg (Ensembl:ENSMUST00000042235) - c.97G>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389068543 | 54 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387686A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387686A>C Locations: - p.Phe54Cys (Ensembl:ENSMUST00000042235) - c.161T>G (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547369344 | 58 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.78387673C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387673C>T Locations: - p.Trp58Ter (Ensembl:ENSMUST00000042235) - c.174G>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547415599 | 60 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387667T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387667T>A Locations: - p.Leu60Phe (Ensembl:ENSMUST00000042235) - c.180A>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs13470335 | 63 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387659A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387659A>G Locations: - p.Leu63Pro (Ensembl:ENSMUST00000042235) - c.188T>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs13470336 | 68 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.78387645C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387645C>A Locations: - p.Glu68Ter (Ensembl:ENSMUST00000042235) - c.202G>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs13470341 | 70 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387638C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387638C>T Locations: - p.Gly70Asp (Ensembl:ENSMUST00000042235) - c.209G>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs1134666337 | 82 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000075.7:g.78387602G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387602G>C Locations: - p.Thr82Ser (Ensembl:ENSMUST00000042235) - c.245C>G (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389068599 | 83 | S>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387599C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387599C>A Locations: - p.Ser83Ile (Ensembl:ENSMUST00000042235) - c.248G>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389060434 | 103 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387540T>A Codon: ATT/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387540T>A Locations: - p.Ile103Phe (Ensembl:ENSMUST00000042235) - c.307A>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs1132155859 | 111 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387423C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387423C>A Locations: - p.Cys111Phe (Ensembl:ENSMUST00000042235) - c.332G>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs1134110252 | 111 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387424A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387424A>G Locations: - p.Cys111Arg (Ensembl:ENSMUST00000042235) - c.331T>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs1134164529 | 134 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000075.7:g.78387354C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387354C>T Locations: - p.Arg134His (Ensembl:ENSMUST00000042235) - c.401G>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547429014 | 135 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78387352C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387352C>G Locations: - p.Glu135Gln (Ensembl:ENSMUST00000042235) - c.403G>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs1133034486 | 150 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000075.7:g.78387306A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78387306A>G Locations: - p.Val150Ala (Ensembl:ENSMUST00000042235) - c.449T>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389063741 | 234 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386977C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386977C>T Locations: - p.Cys234Tyr (Ensembl:ENSMUST00000042235) - c.701G>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547357826 | 240 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000075.7:g.78386960G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386960G>A Locations: - p.Arg240Cys (Ensembl:ENSMUST00000042235) - c.718C>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389063718 | 256 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386911A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386911A>G Locations: - p.Ile256Thr (Ensembl:ENSMUST00000042235) - c.767T>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs583018165 | 268 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386785C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386785C>A Locations: - p.Glu268Asp (Ensembl:ENSMUST00000042235) - c.804G>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389062605 | 276 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386762A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386762A>T Locations: - p.Met276Lys (Ensembl:ENSMUST00000042235) - c.827T>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389047425 | 283 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.78386742C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386742C>A Locations: - p.Val283Phe (Ensembl:ENSMUST00000042235) - c.847G>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3547428988 | 303 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000075.7:g.78386682G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386682G>A Locations: - p.Leu303Phe (Ensembl:ENSMUST00000042235) - c.907C>T (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3400388739 | 328 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386607C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386607C>G Locations: - p.Asp328His (Ensembl:ENSMUST00000042235) - c.982G>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3400473494 | 330 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386599T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386599T>G Locations: - p.Lys330Asn (Ensembl:ENSMUST00000042235) - c.990A>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389054198 | 375 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000075.7:g.78386380A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386380A>G Locations: - p.Leu375Pro (Ensembl:ENSMUST00000042235) - c.1124T>C (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs3389040104 | 412 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000075.7:g.78386269A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386269A>C Locations: - p.Val412Gly (Ensembl:ENSMUST00000042235) - c.1235T>G (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: | |||||||
rs1133265441 | 461 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000075.7:g.78386024C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.78386024C>T Locations: - p.Ala461Thr (Ensembl:ENSMUST00000042235) - c.1381G>A (Ensembl:ENSMUST00000042235) Source type: large scale study Cross-references: |