PR:000000370	smad4 sequence variant G386D (human)	hSMAD4/var:G386D|smad4 sequence variant 4 (human)|UniProtKB:Q13485, Gly-386, CHEBI:29958		associated_with_disease_progression	DOID:0050787	juvenile polyposis syndrome			PMID:15031030	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_019573	20080301	PRO:CNA