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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12809: Variant p.Gly628Val

Voltage-gated inwardly rectifying potassium channel KCNH2
Gene: KCNH2
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Variant information Variant position: help 628
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 628 (G628V, p.Gly628Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In LQT2.
Other resources: help


Sequence information Variant position: help 628
Protein sequence length: help 1159
Location on the sequence: help KDKYVTALYFTFSSLTSVGF G NVSPNTNSEKIFSICVMLIG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1159 Voltage-gated inwardly rectifying potassium channel KCNH2
Intramembrane 612 – 632 Pore-forming; Name=Segment H5
Motif 624 – 629 Selectivity filter
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
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester D.J.; Will M.L.; Haglund C.M.; Ackerman M.J.;
Heart Rhythm 2:507-517(2005)
Cited for: VARIANTS LQT2 ILE-26; LEU-29; SER-31; ARG-53; LEU-55; PRO-65; ARG-70; PRO-78; VAL-85; GLN-100; SER-238; TRP-306; LEU-320; CYS-328; CYS-420; MET-421; THR-422; SER-427; TYR-456; TYR-475 DEL; CYS-534; SER-552; THR-561; VAL-561; PRO-562; LEU-571; SER-572; CYS-582; SER-584; ASP-588; ARG-596; SER-604; MET-613; VAL-614; PHE-622; ILE-623; SER-628; VAL-628; ALA-630; SER-633; ILE-635; VAL-640; PHE-641; 671-ALA--THR-675 DEL; LEU-721; TYR-774; TRP-784; ASP-788; CYS-805; ARG-820; MET-822; GLY-837; HIS-887; VAL-913; ARG-925; ILE-983; ILE-996 AND ASP-1036;
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.