A0A1B0GRU0 · A0A1B0GRU0_MOUSE
- ProteinVesicular glutamate transporter 1
- GeneSlc17a7
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids585 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388882198 | 40 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000073.7:g.44818195G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44818195G>T Locations: - p.Arg40Leu (Ensembl:ENSMUST00000209634) - c.119G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388888274 | 42 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000073.7:g.44818201T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44818201T>A Locations: - p.Val42Glu (Ensembl:ENSMUST00000209634) - c.125T>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388905948 | 52 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000073.7:g.44818230G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44818230G>T Locations: - p.Val52Leu (Ensembl:ENSMUST00000209634) - c.154G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388867146 | 91 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44818347G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44818347G>C Locations: - p.Val91Leu (Ensembl:ENSMUST00000209634) - c.271G>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388911030 | 103 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000073.7:g.44818383G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44818383G>T Locations: - p.Val103Leu (Ensembl:ENSMUST00000209634) - c.307G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3397446420 | 110 | S>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000073.7:g.44818948C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44818948C>A Locations: - p.Ser110Tyr (Ensembl:ENSMUST00000209634) - c.329C>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388911829 | 132 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44819244G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44819244G>A Locations: - p.Ala132Thr (Ensembl:ENSMUST00000209634) - c.394G>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3397084352 | 134 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44819252C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44819252C>G Locations: - p.Phe134Leu (Ensembl:ENSMUST00000209634) - c.402C>G (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388909403 | 148 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44819292T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44819292T>C Locations: - p.Phe148Leu (Ensembl:ENSMUST00000209634) - c.442T>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388910959 | 206 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44819740T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44819740T>A Locations: - p.Leu206Met (Ensembl:ENSMUST00000209634) - c.616T>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388904886 | 224 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44819871C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44819871C>T Locations: - p.Pro224Leu (Ensembl:ENSMUST00000209634) - c.671C>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388895385 | 250 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44820119G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44820119G>C Locations: - p.Ala250Pro (Ensembl:ENSMUST00000209634) - c.748G>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388890991 | 258 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.44820143G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.44820143G>T Locations: - p.Gly258Ter (Ensembl:ENSMUST00000209634) - c.772G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388902543 | 272 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000073.7:g.44820285T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44820285T>C Locations: - p.Phe272Leu (Ensembl:ENSMUST00000209634) - c.814T>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388911810 | 300 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44820369G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44820369G>C Locations: - p.Glu300Gln (Ensembl:ENSMUST00000209634) - c.898G>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388890951 | 308 | K>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000073.7:g.44820393A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44820393A>C Locations: - p.Lys308Gln (Ensembl:ENSMUST00000209634) - c.922A>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388888290 | 315 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.44821199A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.44821199A>T Locations: - p.Lys315Ter (Ensembl:ENSMUST00000209634) - c.943A>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388904917 | 315 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44821201G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44821201G>C Locations: - p.Lys315Asn (Ensembl:ENSMUST00000209634) - c.945G>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388895379 | 316 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000073.7:g.44821202T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44821202T>C Locations: - p.Phe316Leu (Ensembl:ENSMUST00000209634) - c.946T>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388890975 | 415 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44822334C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44822334C>T Locations: - p.Thr415Met (Ensembl:ENSMUST00000209634) - c.1244C>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3389584670 | 478 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44822882C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44822882C>A Locations: - p.Pro478His (Ensembl:ENSMUST00000209634) - c.1433C>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388909393 | 496 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44824196G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824196G>A Locations: - p.Val496Met (Ensembl:ENSMUST00000209634) - c.1486G>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388909339 | 532 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44824305A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824305A>C Locations: - p.Lys532Thr (Ensembl:ENSMUST00000209634) - c.1595A>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388911844 | 534 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44824310G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824310G>T Locations: - p.Gly534Cys (Ensembl:ENSMUST00000209634) - c.1600G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388904725 | 535 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000073.7:g.44824313T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824313T>C Locations: - p.Phe535Leu (Ensembl:ENSMUST00000209634) - c.1603T>C (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388902565 | 539 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44824325G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824325G>T Locations: - p.Asp539Tyr (Ensembl:ENSMUST00000209634) - c.1615G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388882222 | 551 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000073.7:g.44824363C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824363C>G Locations: - p.Asp551Glu (Ensembl:ENSMUST00000209634) - c.1653C>G (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3388902477 | 552 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000073.7:g.44824364G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824364G>T Locations: - p.Glu552Ter (Ensembl:ENSMUST00000209634) - c.1654G>T (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: | |||||||
rs3397844984 | 585 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000073.7:g.44824463T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 7q Genomic location: NC_000073.7:g.44824463T>A Locations: - p.Tyr585Asn (Ensembl:ENSMUST00000209634) - c.1753T>A (Ensembl:ENSMUST00000209634) Source type: large scale study Cross-references: |