PR:000000196	TGF-beta receptor type-1 sequence variant R487W (human)	hTGFBR1/var:R487W|TGF-beta receptor type-1 sequence variant 9 (human)|UniProtKB:P36897-1, Arg-487, CHEBI:29954		associated_with_disease_progression	DOID:14756	vascular type Ehlers-Danlos syndrome			PMID:16928994	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_029485	20080301	PRO:CNA