PR:000000052 TGF-beta receptor type-2 sequence variant R460C (human) hTGFBR2/var:R460C|TGF-beta receptor type-2 sequence variant 11 (human)|UniProtKB:P37173-1, Arg-460, CHEBI:29950 associated_with_disease_progression DOID:0050466 Loeys-Dietz syndrome PMID:15731757 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_029760 20080301 PRO:CNA