PR:000000154 hBMPR2/var:N519K UniProtKB:Q13873, Asn-519, CHEBI:29967 | UniProtKB:Q13873-1, Asn-519, CHEBI:29967 | BMP receptor type-2 sequence variant 14 (human) "A bone morphogenetic protein receptor type-2 (human) that has a Lys residue at the position equivalent to Asn-519 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Asn-519, CHEBI:29967." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
UniProtKB_VAR:VAR_013683 |