2026-10-10T20:25:05Z https://api.figshare.com/v2/oai

oai:figshare.com:article/34036121 2026-09-30T17:44:19Z category_7 category_13 category_14 category_15 category_21 category_272 category_734 category_811 category_132 category_133 portal_5 item_type_1 month_year_09_2026

<p>Summary of the structures and variants.</p> Rose A. Gogal (25145417) Genevieve M. Cox (25145420) Diana L. Kolbe (25145423) Amanda M. Odell (25145426) Chloe E. Ovel (25145429) Katherine I. McCormick (25145432) Brian Hong (9094275) Hela Azaiez (713978) Thomas L. Casavant (10476490) Richard J. H. Smith (10957842) Terry A. Braun (18231361) Michael J. Schnieders (1782085) Medicine Genetics Molecular Biology Neuroscience Biotechnology Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified Infectious Diseases Plant Biology world &# 8217 patient &# 8217 identify twelve probands clinvar 2019 dataset highlight two variants deafness variation database higher prior probability dvd dataset demonstrates missense variation based computational evidence based labeled dvd variants 752 missense variants 237 missense variants deafness associated vus protein folding stability 7 %) genes least 2 kcal intolerant dvd genes deafness variants 7 %) vus ). posterior probability 752 ). 237 ). 0 kcal uncertain significance three bins simpler versions public resource protein misfolding probabilistic frameworks genetic diagnosis biophysical rationale biophysical characterization best accuracy bayesian model amp recommendations also offering 577 classified <p>Panel A summarizes the MolProbity scores for raw AlphaFold3 structures (orange) and OtoProteinV3 optimized structures (blue). Panel B shows an example of the OtoProteinV2 (2023) and OtoProteinV3 (2026) TECTA full-length protein structure colored by AlphaFold pLDDT confidence score. The MolProbity statistics for each structure are shown in the corresponding table. Panel C shows the increase in the number of variants from the 2023 study to the 2026 study.</p> 2026-09-30T17:56:54Z Image Figure 10.1371/journal.pgen.1012085.g001 https://figshare.com/articles/figure/_p_Summary_of_the_structures_and_variants_p_/34036121 CC BY 4.0