PR:000000916 hKCNQ2/iso:3/var:K526N UniProtKB:O43526-3, Lys-526, CHEBI:50347 | voltage-gated potassium channel subunit KCNQ2 sequence variant 9 (human) "A potassium voltage-gated channel subfamily KQT member 2 isoform 3 (human) that has an Asn residue at the position equivalent to Lys-526 of the amino acid sequence represented by UniProtKB:O43526-3. UniProtKB:O43526-3, Lys-526, CHEBI:50347." [PMID:15249611, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14264 benign neonatal seizures |
PMID:15249611 |