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Protein Ontology Report - hKCNV2/var:A259V

PR:000000804 - http://purl.obolibrary.org/obo/PR_000000804
Ontology Information
PRO ID PR:000000804 Show OBO stanza / PAF / GPI
PRO name voltage-gated potassium channel KCNV2 sequence variant A259V (human)
Synonyms
PRO-short-label: EXACT: hKCNV2/var:A259V
PRO-proteoform-std: EXACT: UniProtKB:Q8TDN2, Ala-259, CHEBI:30015
Other: EXACT: voltage-gated potassium channel KCNV2 sequence variant 2 (human)
Definition A potassium voltage-gated channel subfamily V member 2 (human) that has a Val residue at the position equivalent to Ala-259 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Ala-259, CHEBI:30015. [PMID:16909397, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in the loop connecting segments S1 and S2.
PRO Category organism-sequence
Parent PR:Q8TDN2 potassium voltage-gated channel subfamily V member 2 (human)
Taxon NCBITaxon:9606 Homo sapiens
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:000000804
hKCNV2/var:A259V
Ala-259, CHEBI:30015
associated_with_disease_progression DOID:0050795 cone dystrophy PMID:16909397

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