{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006947622,0.0006944441,0.0008745631,0.0006408185,0.0004819809,0.001005952,0.0004139941,0.00222781,0.001635548],"category_scores_gemma":[0.001692494,0.0003609541,0.000686539,0.0004814402,0.001048276,0.0006322255,0.0003325554,0.00126796,0.0005090296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002767217,"about_ca_system_score_gemma":0.0001377209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006787051,"about_ca_topic_score_gemma":0.0009169822,"domain_scores_codex":[0.9989246,0.000137233,0.0001312268,0.0003485383,0.0002936932,0.0001648176],"domain_scores_gemma":[0.9992257,0.0003252965,0.0002079689,0.00004061848,0.00006683361,0.0001335113],"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":[0.003055852,0.0002522591,0.28709,0.0001852765,0.0003989701,0.1131026,0.0008477164,0.0006940094,0.577742,0.0006598217,0.0008421163,0.01512934],"study_design_scores_gemma":[0.0001138267,0.001283633,0.5561731,0.0001855713,0.0007050003,0.2690788,0.001652971,0.004891498,0.157953,0.002001805,0.00581082,0.0001499566],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960614,0.001360389,0.0007152754,0.0006324968,0.00004338632,0.00001270649,0.0001384145,0.00003403392,0.001001911],"genre_scores_gemma":[0.9978579,0.0006110311,0.0007319867,0.0003453114,0.00006042923,0.000003762171,0.0001112264,0.00002817412,0.0002502158],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00222781,"threshold_uncertainty_score":0.005471468,"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."}}