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Protein Ontology report - BMP receptor type-1B sequence variant R486W (human)
PR:000000147 - http://purl.obolibrary.org/obo/PR_000000147
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000147   
  PRO nameBMP receptor type-1B sequence variant R486W (human) 
  Synonyms
PRO-Short-label: EXACT:hBMPR1B/var:R486W
PRO-proteoform-std: EXACT:UniProtKB:O00238, Arg-486, CHEBI:29954
NARROW:UniProtKB:O00238-1, Arg-486, CHEBI:29954
Other: EXACT:BMP receptor type-1B sequence variant 2 (human)
  Definition"A bone morphogenetic protein receptor type-1B (human) that has a Trp residue at the position equivalent to Arg-486 of the amino acid sequence represented by UniProtKB:O00238-1. Example: UniProtKB:O00238-1, Arg-486, CHEBI:29954." [PMID:14523231, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:O00238 bone morphogenetic protein receptor type-1B (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_023820
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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term

Protein Forms & Complexes

Evidence
DO:0050581 brachydactylyPR:000000147 hBMPR1B/var:R486W PMID:14523231

Molecular Function GO Term

Protein Forms & Complexes

Evidence
GO:0004674 protein serine/threonine kinase activityPR:000000147 hBMPR1B/var:R486W PMID:14523231

Cellular Location GO Term

Protein Forms & Complexes

Evidence
GO:0009986 cell surfacePR:000000147 hBMPR1B/var:R486W PMID:14523231