PR:000000050	TGF-beta receptor type-2 sequence variant L308P (human)	hTGFBR2/var:L308P|TGF-beta receptor type-2 sequence variant 1 (human)|UniProtKB:P37173-1, Leu-308, CHEBI:50342	NOT	capable_of	GO:0005026	transforming growth factor beta receptor activity, type II			PMID:15235604	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022351	20080301	PRO:CNA	
PR:000000050	TGF-beta receptor type-2 sequence variant L308P (human)	hTGFBR2/var:L308P|TGF-beta receptor type-2 sequence variant 1 (human)|UniProtKB:P37173-1, Leu-308, CHEBI:50342		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:15235604	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022351	20080301	PRO:CNA