AlphaFold predicted structure
BEST1 · O76090

Mean pLDDT
71.9/ 100
Confident
585 residues
Confidence breakdown
- Very high(≥ 90)54%
- Confident(70–90)10%
- Low(50–70)1%
- Very low(< 50)35%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
bestrophin 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCorneal abnormalities
Glaucoma (developmental)
vitelliform macular dystrophy 2
autosomal recessive bestrophinopathy
Best vitelliform macular dystrophy
autosomal dominant vitreoretinochoroidopathy
retinitis pigmentosa 50
retinitis pigmentosa
MRCS syndrome
Retinal dystrophy
BEST1-related dominant retinopathy
adult-onset foveomacular vitelliform dystrophy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Bestrophin-1
Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Allows the movement of chloride and hydrogencarbonate (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Found in a partially open conformation leading to significantly smaller chloride movement (PubMed:35789156). Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L-glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity). Upon activation of the norepinephrine-alpha-1 adrenergic receptor signaling pathway, transports as well D-serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition (By similarity). Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells (By similarity)
Curated MONDO disease pages that list BEST1 among their top associated genes.
BEST1 · O76090

Mean pLDDT
71.9/ 100
Confident
585 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0