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UniProtKB/Swiss-Prot Q12809: Variant p.Ser26Ile

Voltage-gated inwardly rectifying potassium channel KCNH2
Gene: KCNH2
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Variant information Variant position: help 26
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Isoleucine (I) at position 26 (S26I, p.Ser26Ile).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (I)
BLOSUM score: help -2
Variant description: help In LQT2.
Other resources: help


Sequence information Variant position: help 26
Protein sequence length: help 1159
Location on the sequence: help GHVAPQNTFLDTIIRKFEGQ S RKFIIANARVENCAVIYCND
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1159 Voltage-gated inwardly rectifying potassium channel KCNH2
Topological domain 1 – 403 Cytoplasmic
Alternative sequence 1 – 376 MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQ -> MAAPAGKASRTGALRPRAQKGRVRRAVRISSLVAQE. In isoform B.
Alternative sequence 1 – 102 MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKD -> MSSHSA. In isoform 3.1.
Alternative sequence 1 – 36 MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARV -> MAAPAGKASRTGALRPRAQKGRVRRAVRISSLVAQE. In isoform B-USO.
Mutagenesis 29 – 29 F -> A. Slows down deactivation.
Mutagenesis 43 – 43 Y -> A. Slows down deactivation.
Turn 23 – 26



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.