PR:000000195 hTGFBR1/var:R487E UniProtKB:P36897, Arg-487, CHEBI:29972 | UniProtKB:P36897-1, Arg-487, CHEBI:29972 | TGF-beta receptor type-1 sequence variant 8 (human) "A TGF-beta receptor type-1 (human) that has a Glu residue at the position equivalent to Arg-487 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Arg-487, CHEBI:29972." [PMID:16791849, PMID:16928994, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:16791849; PMID:16928994 |