Bestrophin 1 (BEST1) Associated conditions: 1. Retinitis pigmentosa 2. Stargardt disease
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001139443.3 | NP_001132915.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001300786.2 | NP_001287715.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001300787.2 | NP_001287716.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001363591.3 | NP_001350520.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001363592.2 | NP_001350521.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001363593.3 | NP_001350522.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001440571.1 | NP_001427500.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001440572.1 | NP_001427501.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_001440573.1 | NP_001427502.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 10 | REVIEWED | NM_001440574.1 | NP_001427503.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 11 | REVIEWED | NM_001440575.1 | NP_001427504.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 12 | REVIEWED | NM_001440576.1 | NP_001427505.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 13 | REVIEWED | NM_004183.4 | NP_004174.1 | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
| 14 | REVIEWED | NR_134580.2 | - | NC_000011.10 | (61949820..61965514) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Bestrophin 1 (BEST1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Bestrophin 1 (BEST1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IDA | enables | intracellularly calcium-gated chloride channel activity | Function | 11904445 12907679 18400985 26720466 35789156 |
| 2 | Homo sapiens | IMP | enables | intracellularly calcium-gated chloride channel activity | Function | 18179881 19853238 21330666 26200502 |
| 3 | Homo sapiens | IDA | contributes_to | chloride channel activity | Function | 17003041 |
| 4 | Homo sapiens | IDA | enables | chloride channel activity | Function | 17003041 |
| 5 | Homo sapiens | IEA | enables | chloride channel activity | Function | - |
| 6 | Homo sapiens | TAS | enables | chloride channel activity | Function | - |
| 7 | Homo sapiens | IPI | enables | protein binding | Function | 32296183 |
| 8 | Homo sapiens | TAS | located_in | cytosol | Component | 17003041 |
| 9 | Homo sapiens | IBA | is_active_in | plasma membrane | Component | - |
| 10 | Homo sapiens | IDA | located_in | plasma membrane | Component | 26200502 |
| 11 | Homo sapiens | IEA | located_in | plasma membrane | Component | - |
| 12 | Homo sapiens | TAS | located_in | plasma membrane | Component | - |
| 13 | Homo sapiens | IEA | involved_in | monoatomic ion transport | Process | - |
| 14 | Homo sapiens | IDA | acts_upstream_of_or_within | chloride transport | Process | 17003041 |
| 15 | Homo sapiens | IEA | involved_in | chloride transport | Process | - |
| 16 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 17 | Homo sapiens | TAS | involved_in | visual perception | Process | 9662395 |
| 18 | Homo sapiens | IDA | located_in | basal plasma membrane | Component | 31791063 |
| 19 | Homo sapiens | IEA | involved_in | glutamate secretion | Process | - |
| 20 | Homo sapiens | ISS | involved_in | glutamate secretion | Process | - |
| 21 | Homo sapiens | TAS | enables | bicarbonate transmembrane transporter activity | Function | - |
| 22 | Homo sapiens | IEA | enables | channel activity | Function | - |
| 23 | Homo sapiens | IEA | involved_in | bicarbonate transport | Process | - |
| 24 | Homo sapiens | TAS | located_in | membrane | Component | 10737974 |
| 25 | Homo sapiens | IDA | located_in | basolateral plasma membrane | Component | 11050159 19853238 21330666 26200502 |
| 26 | Homo sapiens | IEA | located_in | basolateral plasma membrane | Component | - |
| 27 | Homo sapiens | IEA | enables | ligand-gated channel activity | Function | - |
| 28 | Homo sapiens | ISS | enables | ligand-gated channel activity | Function | - |
| 29 | Homo sapiens | IDA | involved_in | transepithelial chloride transport | Process | 17003041 |
| 30 | Homo sapiens | IEA | involved_in | monoatomic ion transmembrane transport | Process | - |
| 31 | Homo sapiens | TAS | involved_in | monoatomic ion transmembrane transport | Process | - |
| 32 | Homo sapiens | IDA | part_of | chloride channel complex | Component | 17003041 |
| 33 | Homo sapiens | IEA | part_of | chloride channel complex | Component | - |
| 34 | Homo sapiens | IPI | enables | identical protein binding | Function | 19372599 |
| 35 | Homo sapiens | IEA | involved_in | regulation of synaptic plasticity | Process | - |
| 36 | Homo sapiens | ISS | involved_in | regulation of synaptic plasticity | Process | - |
| 37 | Homo sapiens | IDA | involved_in | protein complex oligomerization | Process | 26200502 |
| 38 | Homo sapiens | IEA | involved_in | gamma-aminobutyric acid secretion, neurotransmission | Process | - |
| 39 | Homo sapiens | ISS | involved_in | gamma-aminobutyric acid secretion, neurotransmission | Process | - |
| 40 | Homo sapiens | IEA | located_in | presynapse | Component | - |
| 41 | Homo sapiens | IEA | located_in | membrane microdomain | Component | - |
| 42 | Homo sapiens | ISS | located_in | membrane microdomain | Component | - |
| 43 | Homo sapiens | IDA | enables | bicarbonate channel activity | Function | 18400985 |
| 44 | Homo sapiens | IBA | involved_in | chloride transmembrane transport | Process | - |