PR:000002131 hTEK/var:R849W UniProtKB:Q02763, Arg-849, CHEBI:29954 | UniProtKB:Q02763-1, Arg-849, CHEBI:29954 | angiopoietin-1 receptor sequence variant 1 (human) "An angiopoietin-1 receptor (human) that has a Trp residue at the position equivalent to Arg-849 of the amino acid sequence represented by UniProtKB:Q02763-1. Example: UniProtKB:Q02763-1, Arg-849, CHEBI:29954." [PMID:10369874, PMID:8980225, PMID:99199243, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050792 multiple cutaneous and mucosal venous malformations |
PMID:10369874; PMID:8980225 |