{"id":"W3120074781","doi":"10.1093/hmg/ddab010","title":"When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein–protein interactions and protein stability","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Biotechnology and Biological Sciences Research Council; Medical Research Council; Medical Research Council Canada; British Heart Foundation; Wellcome Trust","keywords":"Obscurin; Titin; Phospholamban; Sarcomere; Biology; Cell biology; Cardiomyopathy; Genetics; Phenotype; Endoplasmic reticulum; HEK 293 cells; Cardiac muscle; Molecular biology; Myocyte; Endocrinology; Internal medicine; Cell culture; Gene; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003188467,0.000265968,0.0004301518,0.00006340859,0.0002240516,0.00005754426,0.00008933707,0.00009079548,0.0001056359],"category_scores_gemma":[0.0001454509,0.0001971928,0.000192958,0.000131363,0.0002340244,0.00004299112,0.0001905672,0.0002905572,0.000002112817],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005186061,"about_ca_system_score_gemma":0.0001768623,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00012583,"about_ca_topic_score_gemma":0.00003027545,"domain_scores_codex":[0.9982942,0.0002804215,0.0003571206,0.0005022042,0.0002956672,0.0002703463],"domain_scores_gemma":[0.9985587,0.00002385186,0.0001267637,0.0008503971,0.0002784313,0.0001618822],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001187034,0.0003883524,0.0007865352,0.0001304907,0.0003429231,0.000250051,0.002518023,0.000005930246,0.9927519,0.0008478626,0.00003655022,0.001822692],"study_design_scores_gemma":[0.003353546,0.003596134,0.2993772,0.0006851423,0.0006384857,0.0006174781,0.001362955,0.0003176277,0.6704075,0.01812732,0.0008672546,0.0006493395],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946459,0.002114889,0.0005866615,0.0003863199,0.00002704451,0.001579672,0.00008785471,0.00002286002,0.000548803],"genre_scores_gemma":[0.9982268,0.00004709113,0.001207817,0.0001117208,0.0000746052,0.0001001943,0.0000200722,0.00003558087,0.0001761313],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3223444,"threshold_uncertainty_score":0.8041288,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03638266142491951,"score_gpt":0.3069882094732261,"score_spread":0.2706055480483066,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}