PR:000000367	smad4 sequence variant E330G (human)	hSMAD4/var:E330G|smad4 sequence variant 1 (human)|UniProtKB:Q13485, Glu-330, CHEBI:29947		associated_with_disease_progression	DOID:0050787	juvenile polyposis syndrome			PMID:12417513	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022833	20080301	PRO:CNA