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Protein Ontology Report - hKCNQ1/var:R190Q

PR:000000860 - http://purl.obolibrary.org/obo/PR_000000860
Ontology Information
PRO ID PR:000000860 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)
Synonyms
PRO-short-label: hKCNQ1/var:R190Q
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 49 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Arg-190, CHEBI:30011
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-190 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-190, CHEBI:30011. [PMID:10704188, PMID:10728423, PRO:CNA, PRO:DAN]
PRO Category organism-sequence
Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000860
hKCNQ1/var:R190Q
Arg-190, CHEBI:30011 		associated_with_disease_progression DOID:2843 long QT syndrome PMID:10704188, PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:10704188, PMID:9482580
part_of NOT GO:0008076 voltage-gated potassium channel complex PMID:10728423

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