* New variants and in silico analyses in GRK1 associated Oguchi disease.
- Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in-depth bioinformatic analyses to evaluate how their impact on protein structure could lead to pathogenicity. Patients' genomic DNA was sequenced by whole genome, whole exome or focused exome sequencing. Disease associated variants, published and novel, were compared to nondisease associated missense variants. The impact of GRK1 missense variants at the protein level were then predicted using a series of computational tools. We identified twelve previously unpublished cases with biallelic disease associated GRK1 variants, including eight novel variants, and reviewed all GRK1 disease associated variants. Further structure-based scoring revealed a hotspot for missense variants in the kinase domain. In addition, to aid future clinical interpretation, we identified the bioinformatics tools best able to differentiate disease associated from nondisease associated variants. We identified GRK1 variants in Oguchi disease patients and investigated how disease-causing variants may impede protein function in-silico.
Overview of verb reveal
The verb reveal has 3 senses (first 2 from tagged texts)
1. (34) uncover, bring out, unveil, reveal -- (make visible; "Summer brings out bright clothes"; "He
brings out the best in her")
2. (17) unwrap, disclose, let on, bring out, reveal, discover, expose, divulge, break, give away,
let out -- (make known to the public information that was previously known only to a few people or
that was meant to be kept a secret; "The auction house would not disclose the price at which the van
Gogh had sold"; "The actress won't reveal how old she is"; "bring out the truth"; "he broke the news
to her"; "unwrap the evidence in the murder case")
3. reveal -- (disclose directly or through prophets; "God rarely reveal his plans for Mankind")
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