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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12809: Variant p.Glu637Asp

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 Aspartate (D) at position 637 (E637D, p.Glu637Asp).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
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
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C.; Priori S.G.; Schwartz P.J.; Bloise R.; Ronchetti E.; Nastoli J.; Bottelli G.; Cerrone M.; Leonardi S.;
JAMA 294:2975-2980(2005)
Cited for: VARIANTS LQT2 CYS-43; TYR-49; ALA-58; ASP-58; GLY-58; LEU-68; ARG-71; MET-74; SER-251; SER-410; HIS-426; HIS-427; LEU-428; TYR-460; HIS-501; LEU-534; SER-566; ARG-568; VAL-571; ASP-572; LEU-582; HIS-609; PHE-615; ARG-621; ALA-626; ASP-637; PHE-644; CYS-656; LEU-660; PRO-696; TRP-800; PRO-818; HIS-861; LEU-968 AND TYR-1153; Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT2 ALA-16; GLY-20; LEU-29; THR-30; THR-32; PHE-41; TYR-45; ASP-53; HIS-54; PRO-57; TRP-64; ARG-70; ASN-70; 72-PRO--ALA-80 DELINS ARG-PRO-VAL; GLN-72; LEU-72; ARG-74; MET-74; PRO-74; VAL-85; PRO-86; GLY-94; GLN-100; TRP-100; ALA-102; TYR-106; ARG-108; SER-114; CYS-125; LEU-141; ALA-149; HIS-164; VAL-218; GLY-242; ASN-259; ASP-277; THR-291; LEU-301; CYS-312; SER-314; ASN-323; CYS-328; ARG-402; MET-421; CYS-427; LEU-431; LEU-440; LEU-451; TYR-466; ASN-473; CYS-475; ILE-476; THR-490; CYS-493; SER-493; ASN-501; TRP-531; CYS-534; LEU-534; SER-552; GLU-558; THR-561; VAL-561; ARG-562; THR-565; ASP-572; SER-572; VAL-572; CYS-582; ARG-584; SER-584; CYS-585; LYS-593; ASP-594; HIS-596; LEU-596; CYS-597; ARG-599; CYS-601; SER-601; SER-604; LEU-605; SER-605; GLY-609; MET-613; VAL-614; CYS-616; ASP-626; SER-628; ILE-629; SER-629; ILE-634; ASP-635; LYS-635; ASP-637; ASN-638; LYS-638 DEL; LEU-644; PHE-644; ILE-645; SER-648; ARG-657; LEU-660; THR-662; PRO-678; TYR-687; PRO-693; VAL-711; PHE-728; VAL-749; ASN-757; TYR-767; ALA-770; TYR-774; LYS-788; 791-ARG--LEU-799 DEL; TRP-791; GLU-806; MET-822; TRP-823; TYR-837; SER-846; CYS-885; CYS-894; LEU-894; ARG-903; LEU-906; VAL-913; GLN-920; TRP-920; GLN-922; ALA-924; GLU-924; ASN-937; GLN-1005; HIS-1007; TRP-1033; MET-1038; PRO-1049; VAL-1066; CYS-1078; LEU-1093 AND VAL-1115;
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.