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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UL51: Variant p.Glu280Lys

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
Gene: HCN2
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Variant information Variant position: help 280
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Lysine (K) at position 280 (E280K, p.Glu280Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help Does not affect channel activity.
Other resources: help


Sequence information Variant position: help 280
Protein sequence length: help 889
Location on the sequence: help VLNFRTGIVIEDNTEIILDP E KIKKKYLRTWFVVDFVSSIP
Residue conservation: help 
Human                         VLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP

Mouse                         VLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP

Rat                           VLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 889 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
Topological domain 262 – 288 Cytoplasmic



Literature citations
Gain-of-function HCN2 variants in genetic epilepsy.
Li M.; Maljevic S.; Phillips A.M.; Petrovski S.; Hildebrand M.S.; Burgess R.; Mount T.; Zara F.; Striano P.; Schubert J.; Thiele H.; Nuernberg P.; Wong M.; Weisenberg J.L.; Thio L.L.; Lerche H.; Scheffer I.E.; Berkovic S.F.; Petrou S.; Reid C.A.;
Hum. Mutat. 39:202-209(2018)
Cited for: VARIANTS EIG17 MET-246; TRP-632 AND CYS-756; CHARACTERIZATION OF VARIANTS EIG17 MET-246; TRP-632 AND CYS-756; INVOLVEMENT IN EIG17; CHARACTERIZATION OF VARIANTS LYS-280 AND THR-705;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.