PR:000000193	TGF-beta receptor type-1 sequence variant D400G (human)	hTGFBR1/var:D400G|TGF-beta receptor type-1 sequence variant 6 (human)|UniProtKB:P36897-1, Asp-400, CHEBI:29947		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:15731757	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_022346	20080301	PRO:CNA