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Protein Ontology Report - hKCNQ1/var:S140G

PR:000000851 - http://purl.obolibrary.org/obo/PR_000000851
Ontology Information
PRO ID PR:000000851 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant S140G (human)
Synonyms
PRO-short-label: hKCNQ1/var:S140G
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 40 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Ser-140, CHEBI:29947
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gly residue at the position equivalent to Ser-140 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ser-140, CHEBI:29947. [PMID:12522251, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in the segment S1.
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:000000851
hKCNQ1/var:S140G
Ser-140, CHEBI:29947
associated_with_disease_progression DOID:0050650 familial atrial fibrillation PMID:12522251
capable_of GO:0005267 potassium channel activity increased relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:12522251
has_agent SO:0001557 polypeptide_gain_of_function_variant PMID:12522251

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