Sequence information
Variant position: 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1159 The length of the canonical sequence.
Location on the sequence:
NDGFCELCGYSRAEVMQRPC
T CDFLHGPRTQRRAAAQIAQA
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NDGFCELCGYSRAEVMQRPCT CDFLHGPRTQRRAAAQIAQA
Mouse NDGFCELCGYSRAEVMQRPCT CDFLHGPRTQRRAAAQIAQA
Rat NDGFCELCGYSRAEVMQRPCT CDFLHGPRTQRRAAAQIAQA
Rabbit NDGFCELCGYSRAEVMQRPCT CDFLHGPRTQRRAAAQIAQA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 1159
Potassium voltage-gated channel subfamily H member 2
Topological domain
1 – 403
Cytoplasmic
Domain
41 – 70
PAS
Alternative sequence
1 – 376
MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKDGSCFLCLVDVVPVKNEDGAVIMFILNFEVVMEKDMVGSPAHDTNHRGPPTSWLAPGRAKTFRLKLPALLALTARESSVRSGGAGGAGAPGAVVVDVDLTPAAPSSESLALDEVTAMDNHVAGLGPAEERRALVGPGSPPRSAPGQLPSPRAHSLNPDASGSSCSLARTRSRESCASVRRASSADDIEAMRAGVLPPPPRHASTGAMHPLRSGLLNSTSDSDLVRYRTISKIPQITLNFVDLKGDPFLASPTSDREIIAPKIKERTHNVTEKVTQ -> MAAPAGKASRTGALRPRAQKGRVRRAVRISSLVAQE. In isoform B.
Alternative sequence
1 – 102
MPVRRGHVAPQNTFLDTIIRKFEGQSRKFIIANARVENCAVIYCNDGFCELCGYSRAEVMQRPCTCDFLHGPRTQRRAAAQIAQALLGAEERKVEIAFYRKD -> MSSHSA. In isoform 3.1.
Alternative sequence
37 – 376
Missing. In isoform B-USO.
Literature citations
Tetrameric assembly of K(+) channels requires ER-located chaperone proteins.
Li K.; Jiang Q.; Bai X.; Yang Y.F.; Ruan M.Y.; Cai S.Q.;
Mol. Cell 65:52-65(2017)
Cited for: FUNCTION; SUBUNIT; INTERACTION WITH DNAJB12 AND DNAJB14; VARIANT LQT2 TYR-64; CHARACTERIZATION OF VARIANTS LQT2 TYR-64 AND PRO-65;
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.
Paulussen A.; Raes A.; Matthijs G.; Snyders D.J.; Cohen N.; Aerssens J.;
J. Biol. Chem. 277:48610-48616(2002)
Cited for: VARIANT LQT2 PRO-65;
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.