{"id":"W4404536734","doi":"10.1186/s13041-024-01152-z","title":"A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating","year":2024,"lang":"en","type":"article","venue":"Molecular Brain","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia Hospital; Kwantlen Polytechnic University; Canada's Michael Smith Genome Sciences Centre; University of British Columbia","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Fondation pour la Recherche sur Alzheimer","keywords":"Alternative splicing; Gene isoform; Familial hemiplegic migraine; Gating; Exon; Context (archaeology); RNA splicing; Mutation; Voltage-dependent calcium channel; Biology; Neuroscience; Calcium channel; Genetics; Chemistry; Gene; Calcium; Internal medicine; Medicine; Migraine with aura","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":[0.0001893994,0.0001562176,0.0001552599,0.0001236963,0.00008634318,0.00001502003,0.0001420052,0.0001233493,0.00006461064],"category_scores_gemma":[0.0001524993,0.00009777673,0.0005308872,0.001143801,0.00008048443,0.000004591426,0.00006277736,0.0001142236,0.000002704862],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004618582,"about_ca_system_score_gemma":0.0001090029,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003333636,"about_ca_topic_score_gemma":0.00002175539,"domain_scores_codex":[0.9988867,0.000133898,0.0002568055,0.000292207,0.0002834203,0.000146973],"domain_scores_gemma":[0.9992625,0.00003071006,0.0001285853,0.0003679453,0.0001772515,0.00003304735],"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":[0.0001225201,0.00001634181,0.0003784624,0.00001577187,0.0004554078,0.000001494135,0.0001525857,0.0683862,0.9285852,0.0002090507,0.001105304,0.0005716234],"study_design_scores_gemma":[0.0009783611,0.0007753102,0.1778859,0.0001010073,0.0006208161,0.00004609603,0.0003053151,0.1563274,0.6608285,0.0004664458,0.001192294,0.0004724903],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968314,0.0005892828,0.001089903,0.0002925275,0.0008216943,0.0001912529,0.00005943492,0.00001058175,0.0001139647],"genre_scores_gemma":[0.9989107,0.00001007328,0.00002108218,0.0001581636,0.0002009261,0.000005117118,0.0003308037,0.00002018622,0.00034298],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2677567,"threshold_uncertainty_score":0.398722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0167842432418358,"score_gpt":0.2614754976077712,"score_spread":0.2446912543659354,"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."}}