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Protein Ontology Report - hKCNQ1/var:W305S

PR:000000876 - http://purl.obolibrary.org/obo/PR_000000876
Ontology Information
PRO ID PR:000000876 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant W305S (human)
Synonyms
PRO-short-label: hKCNQ1/var:W305S
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 63 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Trp-305, CHEBI:29999
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Ser residue at the position equivalent to Trp-305 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Trp-305, CHEBI:29999. [PMID:9781056, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in the pore region between segments S5 and S6.
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:000000876
hKCNQ1/var:W305S
Trp-305, CHEBI:29999
associated_with_disease_progression DOID:2842 Jervell-Lange Nielsen syndrome PMID:9781056

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