Sequence information
Variant position: 56 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:
VENCAVIYCNDGFCELCGYS
R AEVMQRPCTCDFLHGPRTQR
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 VENCAVIYCNDGFCELCGYSR AEVMQRPCTCDFLHGPRTQR
Mouse VENCAVIYCNDGFCELCGYSR AEVMQRPCTCDFLHGPRTQR
Rat VENCAVIYCNDGFCELCGYSR AEVMQRPCTCDFLHGPRTQR
Rabbit VENCAVIYCNDGFCELCGYSR AEVMQRPCTCDFLHGPRTQR
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.
Mutagenesis
43 – 43
Y -> A. Slows down deactivation.
Helix
56 – 59
Literature citations
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
Chen J.; Zou A.; Splawski I.; Keating M.T.; Sanguinetti M.C.;
J. Biol. Chem. 274:10113-10118(1999)
Cited for: VARIANTS LQT2 LEU-29; THR-33; ARG-53; GLN-56; GLY-66; ARG-70; PRO-78 AND ARG-86;
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.