S4R2M7 · S4R2M7_MOUSE
- ProteinPhosphoglycerate kinase
- GenePgk1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids255 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389568060 | 10 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.105230884G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105230884G>A Locations: - p.Asp10Asn (Ensembl:ENSMUST00000135949) - c.28G>A (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3389552540 | 93 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.105238243T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105238243T>A Locations: - p.Val93Asp (Ensembl:ENSMUST00000135949) - c.278T>A (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3411575815 | 96 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.105238251T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105238251T>A Locations: - p.Leu96Met (Ensembl:ENSMUST00000135949) - c.286T>A (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3389522721 | 132 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.105238359G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105238359G>A Locations: - p.Gly132Arg (Ensembl:ENSMUST00000135949) - c.394G>A (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3389584243 | 164 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.105240521G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105240521G>A Locations: - p.Asp164Asn (Ensembl:ENSMUST00000135949) - c.490G>A (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3411306335 | 165 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.105240525C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105240525C>T Locations: - p.Ala165Val (Ensembl:ENSMUST00000135949) - c.494C>T (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3411306363 | 171 | R>H* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.105240542_105240543insATT Codon: CGA/CATTGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.105240542_105240543insATT Locations: - p.Arg171delinsHisTer (Ensembl:ENSMUST00000135949) - c.511_512insATT (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3389573479 | 172 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000086.8:g.105240545G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105240545G>A Locations: - p.Ala172Thr (Ensembl:ENSMUST00000135949) - c.514G>A (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3411779485 | 199 | K>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000086.8:g.105241522A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105241522A>T Locations: - p.Lys199Met (Ensembl:ENSMUST00000135949) - c.596A>T (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3389572220 | 245 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000086.8:g.105243344C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105243344C>G Locations: - p.Leu245Val (Ensembl:ENSMUST00000135949) - c.733C>G (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: | |||||||
rs3411779489 | 254 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000086.8:g.105243726A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.105243726A>G Locations: - p.Arg254Gly (Ensembl:ENSMUST00000135949) - c.760A>G (Ensembl:ENSMUST00000135949) Source type: large scale study Cross-references: |