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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12809: Variant p.Glu637Lys

Voltage-gated inwardly rectifying potassium channel KCNH2
Gene: KCNH2
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Variant information Variant position: help 637
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 637 (E637K, p.Glu637Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In LQT2.
Other resources: help


Sequence information Variant position: help 637
Protein sequence length: help 1159
Location on the sequence: help FTFSSLTSVGFGNVSPNTNS E KIFSICVMLIGSLMYASIFG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1159 Voltage-gated inwardly rectifying potassium channel KCNH2
Topological domain 633 – 638 Extracellular
Mutagenesis 629 – 629 N -> Q. Abolishes cell surface expression; has no effect on N-glycosylation.
Mutagenesis 631 – 631 S -> A. No effect on cell surface expression, but changes inactivation kinetics; when associated with Q-598.



Literature citations
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
Hayashi K.; Shimizu M.; Ino H.; Yamaguchi M.; Mabuchi H.; Hoshi N.; Higashida H.;
Cardiovasc. Res. 54:67-76(2002)
Cited for: VARIANT LQT2 LYS-637;
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.