back to PRO homepage

Protein Ontology Report - hKCNQ1/var:T312I

PR:000000890 - http://purl.obolibrary.org/obo/PR_000000890
Ontology Information
PRO ID PR:000000890 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant T312I (human)
Synonyms
PRO-short-label: hKCNQ1/var:T312I
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 9 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Thr-312, CHEBI:30009
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has an Ile residue at the position equivalent to Thr-312 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Thr-312, CHEBI:30009. [PMID:10409658, PMID:9323054, 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:000000890
hKCNQ1/var:T312I
Thr-312, CHEBI:30009
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10409658, PMID:9323054
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10409658, PMID:9323054
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:10409658, PMID:9323054

top