PR:000000054	TGF-beta receptor type-2 sequence variant R528C (human)	hTGFBR2/var:R528C|TGF-beta receptor type-2 sequence variant 13 (human)|UniProtKB:P37173-1, Arg-528, CHEBI:29950		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:15731757	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022360	20080301	PRO:CNA