{"id":"ed06375f-346d-5ce8-914b-1c4ca6b0fdab","stable_key":"507ed066-fd6d-5722-9223-97b66302e7e3:glycine-renal-modifier","predicate":"modifies_tested","statement":"SLC6A20 mutations accompanied iminoglycinuria when combined with SLC36A2 variants retaining residual transport.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"a13aa1fe-a7f6-522b-95e7-9feef6a4f4b2","mechanism_event_label":"A second transporter can change the effect of the first defect.","subject":{"id":"01b4d4c1-f1a8-59e3-84e3-fb851d5ddf46","slug":"slc6a20","display_name":"Human imino-acid transporter / SLC6A20","entity_type_key":"protein"},"object":{"id":"972d9992-b09f-5c22-b8e8-914e01eb43ec","slug":"human-pat2-residual-phenotype","display_name":"Phenotype with residual SLC36A2 transport","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"a13aa1fe-a7f6-522b-95e7-9feef6a4f4b2","stable_key":"507ed066-fd6d-5722-9223-97b66302e7e3:glycine-renal-modifier-event","event_type":"observed_relationship","label":"A second transporter can change the effect of the first defect.","description":"SLC6A20 mutations accompanied iminoglycinuria when combined with SLC36A2 variants retaining residual transport.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"01b4d4c1-f1a8-59e3-84e3-fb851d5ddf46","slug":"slc6a20","display_name":"Human imino-acid transporter / SLC6A20","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"972d9992-b09f-5c22-b8e8-914e01eb43ec","slug":"human-pat2-residual-phenotype","display_name":"Phenotype with residual SLC36A2 transport","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"2b507258-430c-51fe-9fd2-e510c2c197a9","slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"eb609e88-d268-57c6-beb9-022fee940c19","slug":"slc36a2","display_name":"Human proton-coupled amino acid transporter 2 / SLC36A2","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family genotype/functional analysis.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Modifier evidence is not proof of ordinary dietary competition between glycine and proline.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Glycine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A second transporter can change the effect of the first defect.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. · 2008 · https://pubmed.ncbi.nlm.nih.gov/19033659/ · DOI 10.1172/JCI36625","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"75e20946-7dcc-50d6-962a-f478c63edaf7","evidence_kind":"source_excerpt","locator":"Lines 74-80","start_line":74,"end_line":80,"excerpt":"## glycine-renal-modifier\nA second transporter can change the effect of the first defect.\nSLC6A20 mutations accompanied iminoglycinuria when combined with SLC36A2 variants retaining residual transport.\nModel: Human family genotype/functional analysis.\nLimitations: Modifier evidence is not proof of ordinary dietary competition between glycine and proline.\nEvidence access: Primary abstract\nIminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. · 2008 · https://pubmed.ncbi.nlm.nih.gov/19033659/ · DOI 10.1172/JCI36625","model_system":"Human family genotype/functional analysis.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"7b2859d8-e2bf-51e7-8e32-0715c10cbc49","stable_key":"import-507ed066-fd6d-5722-9223-97b66302e7e3","title":"Glycine: supply, one-carbon allocation, receptors and cross-nutrient mechanisms (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary references, access levels and experimental limitations individually identified. 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