PR:000000191	TGF-beta receptor type-1 sequence variant N267H (human)	hTGFBR1/var:N267H|TGF-beta receptor type-1 sequence variant 4 (human)|UniProtKB:P36897-1, Asn-267, CHEBI:29979		associated_with_disease_progression	DOID:0050466	Loeys-Dietz syndrome			PMID:16791849	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_029483	20080301	PRO:CNA