Q91YH6 · VATB1_MOUSE
- ProteinV-type proton ATPase subunit B, kidney isoform
- GeneAtp6v1b1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids513 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388833208 | 89 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83729180T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83729180T>C Locations: - p.Ile89Thr (Ensembl:ENSMUST00000006431) - c.266T>C (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388823051 | 136 | G>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.83729870G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.83729870G>T Locations: - p.Gly136Ter (Ensembl:ENSMUST00000006431) - c.406G>T (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388830080 | 189 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83730868G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83730868G>A Locations: - p.Ala189Thr (Ensembl:ENSMUST00000006431) - c.565G>A (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388838281 | 196 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83731707A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83731707A>G Locations: - p.Ile196Val (Ensembl:ENSMUST00000006431) - c.586A>G (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388818026 | 199 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83731717A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83731717A>G Locations: - p.Gln199Arg (Ensembl:ENSMUST00000006431) - c.596A>G (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388839897 | 233 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83732380G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83732380G>T Locations: - p.Glu233Asp (Ensembl:ENSMUST00000006431) - c.699G>T (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388837646 | 262 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83732466C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83732466C>A Locations: - p.Thr262Lys (Ensembl:ENSMUST00000006431) - c.785C>A (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388830128 | 282 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83733229A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83733229A>T Locations: - p.Gln282Leu (Ensembl:ENSMUST00000006431) - c.845A>T (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388836195 | 283 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.83733233T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.83733233T>A Locations: - p.Cys283Ter (Ensembl:ENSMUST00000006431) - c.849T>A (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388839921 | 287 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000072.7:g.83733243G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83733243G>A Locations: - p.Val287Met (Ensembl:ENSMUST00000006431) - c.859G>A (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388838238 | 335 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83733628G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83733628G>A Locations: - p.Val335Met (Ensembl:ENSMUST00000006431) - c.1003G>A (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3396733061 | 419-420 | CY>TS | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.83735105_83735106insACGTCCTTCCCGATGGCGTAGCAGGCG Codon: -/ACGTCCTTCCCGATGGCGTAGCAGGCG Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.83735105_83735106insACGTCCTTCCCGATGGCGTAGCAGGCG Locations: - p.Cys419_Tyr420insThrSerPheProMetAlaTer (Ensembl:ENSMUST00000006431) - c.1257_1258insACGTCCTTCCCGATGGCGTAGCAGGCG (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3396733035 | 423 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000072.7:g.83735116G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83735116G>C Locations: - p.Gly423Ala (Ensembl:ENSMUST00000006431) - c.1268G>C (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388837640 | 445 | Y>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000072.7:g.83735181T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83735181T>C Locations: - p.Tyr445His (Ensembl:ENSMUST00000006431) - c.1333T>C (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3396733050 | 462 | Y>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000072.7:g.83735318_83735319insG Codon: TAC/TAGC Consequence type: stop gained Cytogenetic band: 6q Genomic location: NC_000072.7:g.83735318_83735319insG Locations: - p.Tyr462Ter (Ensembl:ENSMUST00000006431) - c.1385_1386insG (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: | |||||||
rs3388830143 | 510 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000072.7:g.83735461G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 6q Genomic location: NC_000072.7:g.83735461G>C Locations: - p.Asp510His (Ensembl:ENSMUST00000006431) - c.1528G>C (Ensembl:ENSMUST00000006431) Source type: large scale study Cross-references: |