Q04602 · VBA4_YEAST
- ProteinVacuolar basic amino acid transporter 4
- GeneVBA4
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids768 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s04-688350 | 43 | R>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: IV:g.688353A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: Genomic location: IV:g.688353A>G Locations: - p.Arg43Gly (Ensembl:YDR119W_mRNA) - c.127A>G (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688350 | |||||||
s04-688429 | 69 | S>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.688432G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688432G>A Locations: - p.Ser69Asn (Ensembl:YDR119W_mRNA) - c.206G>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688429 | |||||||
s04-688434 | 71 | Q>K | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: IV:g.688437C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: Genomic location: IV:g.688437C>A Locations: - p.Gln71Lys (Ensembl:YDR119W_mRNA) - c.211C>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688434 | |||||||
s04-688471 | 83 | D>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.688474A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688474A>G Locations: - p.Asp83Gly (Ensembl:YDR119W_mRNA) - c.248A>G (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688471 | |||||||
s04-688510 | 96 | I>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.99) Somatic: No Accession: IV:g.688513T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688513T>C Locations: - p.Ile96Thr (Ensembl:YDR119W_mRNA) - c.287T>C (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688510 | |||||||
s04-688515 | 98 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: IV:g.688518G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.688518G>A Locations: - p.Asp98Asn (Ensembl:YDR119W_mRNA) - c.292G>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688515 | |||||||
s04-688527 | 102 | D>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: IV:g.688530G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688530G>A Locations: - p.Asp102Asn (Ensembl:YDR119W_mRNA) - c.304G>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688527 | |||||||
s04-688582 | 120 | L>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: IV:g.688585T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688585T>A Locations: - p.Leu120His (Ensembl:YDR119W_mRNA) - c.359T>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688582 | |||||||
s04-688599 | 126 | H>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: IV:g.688602C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688602C>A Locations: - p.His126Asn (Ensembl:YDR119W_mRNA) - c.376C>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688599 | |||||||
s04-688605 | 128 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: IV:g.688608G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: IV:g.688608G>A Locations: - p.Ala128Thr (Ensembl:YDR119W_mRNA) - c.382G>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688605 | |||||||
s04-688686 | 155 | C>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.86) Somatic: No Accession: IV:g.688689T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: Genomic location: IV:g.688689T>G Locations: - p.Cys155Gly (Ensembl:YDR119W_mRNA) - c.463T>G (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688686 | |||||||
s04-688716 | 165 | P>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: IV:g.688719C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: IV:g.688719C>T Locations: - p.Pro165Ser (Ensembl:YDR119W_mRNA) - c.493C>T (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688716 | |||||||
s04-688782 | 187 | T>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: IV:g.688785A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: Genomic location: IV:g.688785A>C Locations: - p.Thr187Pro (Ensembl:YDR119W_mRNA) - c.559A>C (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688782 | |||||||
s04-688785 | 188 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: IV:g.688788T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: Genomic location: IV:g.688788T>A Locations: - p.Ser188Thr (Ensembl:YDR119W_mRNA) - c.562T>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688785 | |||||||
s04-688797 | 192 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: IV:g.688800T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688800T>C Locations: - p.Ser192Pro (Ensembl:YDR119W_mRNA) - c.574T>C (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688797 | |||||||
s04-688802 | 193 | L>F | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: IV:g.688805G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688805G>T Locations: - p.Leu193Phe (Ensembl:YDR119W_mRNA) - c.579G>T (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688802 | |||||||
s04-688816 | 198 | P>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: IV:g.688819C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: Genomic location: IV:g.688819C>T Locations: - p.Pro198Leu (Ensembl:YDR119W_mRNA) - c.593C>T (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688816 | |||||||
s04-688818 | 199 | S>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: IV:g.688821T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: Genomic location: IV:g.688821T>C Locations: - p.Ser199Pro (Ensembl:YDR119W_mRNA) - c.595T>C (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-688818 | |||||||
s04-689094 | 291 | S>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: IV:g.689097T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: Genomic location: IV:g.689097T>A Locations: - p.Ser291Thr (Ensembl:YDR119W_mRNA) - c.871T>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689094 | |||||||
s04-689334 | 371 | S>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: IV:g.689337A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: Genomic location: IV:g.689337A>G Locations: - p.Ser371Gly (Ensembl:YDR119W_mRNA) - c.1111A>G (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689334 | |||||||
s04-689400 | 393 | M>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.89) Somatic: No Accession: IV:g.689403A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Genomic location: IV:g.689403A>G Locations: - p.Met393Val (Ensembl:YDR119W_mRNA) - c.1177A>G (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689400 | |||||||
s04-689443 | 407 | A>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: IV:g.689446C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: Genomic location: IV:g.689446C>T Locations: - p.Ala407Val (Ensembl:YDR119W_mRNA) - c.1220C>T (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689443 | |||||||
s04-689523 | 434 | Y>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.3) Somatic: No Accession: IV:g.689526T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.689526T>C Locations: - p.Tyr434His (Ensembl:YDR119W_mRNA) - c.1300T>C (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689523 | |||||||
s04-689529 | 436 | R>G | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.36) Somatic: No Accession: IV:g.689532C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: Genomic location: IV:g.689532C>G Locations: - p.Arg436Gly (Ensembl:YDR119W_mRNA) - c.1306C>G (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689529 | |||||||
s04-689539 | 439 | P>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.78) Somatic: No Accession: IV:g.689542C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: Genomic location: IV:g.689542C>T Locations: - p.Pro439Leu (Ensembl:YDR119W_mRNA) - c.1316C>T (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689539 | |||||||
s04-689737 | 505 | S>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: IV:g.689740G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.689740G>A Locations: - p.Ser505Asn (Ensembl:YDR119W_mRNA) - c.1514G>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-689737 | |||||||
s04-690264 | 681 | L>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: IV:g.690267C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: Genomic location: IV:g.690267C>A Locations: - p.Leu681Ile (Ensembl:YDR119W_mRNA) - c.2041C>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-690264 | |||||||
s04-690500 | 759 | C>* | SGRP | ||||
Consequence: stop gained Somatic: No Accession: IV:g.690503T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: Genomic location: IV:g.690503T>A Locations: - p.Cys759Ter (Ensembl:YDR119W_mRNA) - c.2277T>A (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-690500 | |||||||
s04-690526 | 768 | S>F | SGRP | ||||
Consequence: missense Somatic: No Accession: IV:g.690529C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Genomic location: IV:g.690529C>T Locations: - p.Ser768Phe (Ensembl:YDR119W_mRNA) - c.2303C>T (Ensembl:YDR119W_mRNA) Source type: large scale study Cross-references: - SGRP: s04-690526 |