{"id":"W1977896619","doi":"10.1002/prot.10611","title":"Missense mutations in transmembrane domains of proteins: Phenotypic propensity of polar residues for human disease","year":2004,"lang":"en","type":"article","venue":"Proteins Structure Function and Bioinformatics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":107,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research","keywords":"Missense mutation; Transmembrane domain; Transmembrane protein; Biology; Membrane protein; Genetics; Protein structure; Biochemistry; Mutation; Phenotype; Amino acid; Gene; Chemistry; Membrane","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001576831,0.0001636965,0.0002238633,0.0001015794,0.0001051129,0.00001429486,0.00008625372,0.0001399094,0.000009877283],"category_scores_gemma":[0.00008464859,0.0001343302,0.00007712848,0.0001137847,0.0001113695,0.00001941251,0.00002396857,0.00006672639,2.576257e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001115532,"about_ca_system_score_gemma":0.0001022485,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004555612,"about_ca_topic_score_gemma":0.0002157585,"domain_scores_codex":[0.9990622,0.0000272994,0.0004442296,0.0001613235,0.0001427764,0.0001621266],"domain_scores_gemma":[0.9993368,0.000006574079,0.0002250713,0.0002303814,0.0001228317,0.00007833439],"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":[0.000698635,0.00007785048,0.0005585877,0.0009940744,0.00004014455,5.774836e-7,0.0002834903,0.000162196,0.9921365,0.002966452,0.000003314529,0.00207813],"study_design_scores_gemma":[0.002303749,0.0009723219,0.009308808,0.0001498008,0.00006156915,0.000007386318,0.0002309732,0.00005174871,0.9641078,0.02228831,0.0002818479,0.0002357329],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.939635,0.0002377737,0.05766208,0.0001150429,0.0000418409,0.002031425,0.0002084297,0.00001084431,0.00005754021],"genre_scores_gemma":[0.9699224,0.00002269774,0.02965574,0.00004928545,0.00004134933,0.00007009376,0.0001954055,0.00001389118,0.00002918243],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03028733,"threshold_uncertainty_score":0.5477825,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01110367083506009,"score_gpt":0.2271495258586634,"score_spread":0.2160458550236033,"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."}}