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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot B7U540: Variant p.Gly169Arg

Inward rectifier potassium channel 18
Gene: KCNJ18
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Variant information Variant position: help 169
Type of variant: help LB/B
Residue change: help From Glycine (G) to Arginine (R) at position 169 (G169R, p.Gly169Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help Found in a patient with hypokalemic periodic paralysis without hyperthyroidism; reduces potassium inward and outward currents density.
Other resources: help


Sequence information Variant position: help 169
Protein sequence length: help 433
Location on the sequence: help RCVTEECLVAVFMVVAQSIV G CIIDSFMIGAIMAKMARPKK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 433 Inward rectifier potassium channel 18
Transmembrane 156 – 183 Helical; Name=M2
Mutagenesis 156 – 156 L -> P. Increased expression at the cell membrane.



Literature citations
A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.
Zheng J.; Liang Z.; Hou Y.; Liu F.; Hu Y.; Lin P.; Yan C.;
Clin. Neurophysiol. 127:2503-2508(2016)
Cited for: VARIANT ARG-169; CHARACTERIZATION OF VARIANT ARG-169; CHARACTERIZATION OF VARIANTS TTPP2 126-GLN--HIS-344 DEL; THR-360 AND LYS-388;
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.