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Protein Ontology report - cyclic nucleotide-gated cation channel beta-3 sequence variant S435F (human)
PR:000000752 - http://purl.obolibrary.org/obo/PR_000000752
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000752   
  PRO namecyclic nucleotide-gated cation channel beta-3 sequence variant S435F (human) 
  Synonyms
PRO-Short-label: EXACT:hCNGB3/var:S435F
PRO-proteoform-std: EXACT:UniProtKB:Q9NQW8, Ser-435, CHEBI:29997
NARROW:UniProtKB:Q9NQW8-1, Ser-435, CHEBI:29997
Other: EXACT:cyclic nucleotide-gated cation channel beta-3 sequence variant 1 (human)
  Definition"A cyclic nucleotide-gated cation channel beta-3 (human) that has a Phe residue at the position equivalent to Ser-435 of the amino acid sequence represented by UniProtKB:Q9NQW8-1. Example: UniProtKB:Q9NQW8-1, Ser-435, CHEBI:29997." [PMID:10888875, PMID:10958649, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:Q9NQW8 cyclic nucleotide-gated cation channel beta-3 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_018111
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000752 hCNGB3/var:S435F
UniProtKB:Q9NQW8, Ser-435, CHEBI:29997 | UniProtKB:Q9NQW8-1, Ser-435, CHEBI:29997 | cyclic nucleotide-gated cation channel beta-3 sequence variant 1 (human)
"A cyclic nucleotide-gated cation channel beta-3 (human) that has a Phe residue at the position equivalent to Ser-435 of the amino acid sequence represented by UniProtKB:Q9NQW8-1. Example: UniProtKB:Q9NQW8-1, Ser-435, CHEBI:29997." [PMID:10888875, PMID:10958649, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:13911 achromatopsia PMID:10888875; PMID:10958649