PR:000000190 hTGFBR1/var:S241L UniProtKB:P36897, Ser-241, CHEBI:30006 | UniProtKB:P36897-1, Ser-241, CHEBI:30006 | TGF-beta receptor type-1 sequence variant 3 (human) "A TGF-beta receptor type-1 (human) that has a Leu residue at the position equivalent to Ser-241 of the amino acid sequence represented by UniProtKB:P36897-1. Example: UniProtKB:P36897-1, Ser-241, CHEBI:30006." [PMID:16596670, PMID:16791849, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:16596670; PMID:16791849 |