Sequence information
Variant position: 818 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:
ILGKNDIFGEPLNLYARPGK
S NGDVRALTYCDLHKIHRDDL
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 ILGKNDIFGEPLNLYARPGKS NGDVRALTYCDLHKIHRDDL
Mouse ILGKNDIFGEPLNLYARPGKS NGDVRALTYCDLHKIHRDDL
Rat ILGKNDIFGEPLNLYARPGKS NGDVRALTYCDLHKIHRDDL
Rabbit ILGKNDIFGEPLNLYARPGKS NGDVRALTYCDLHKIHRDDL
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
660 – 1159
Cytoplasmic
Binding site
742 – 842
Alternative sequence
801 – 888
KNDIFGEPLNLYARPGKSNGDVRALTYCDLHKIHRDDLLEVLDMYPEFSDHFWSSLEITFNLRDTNMIPGSPGSTELEGGFSRQRKRK -> MGWGAGTGLEMPSAASRGASLLNMQSLGLWTWDCLQGHWAPLIHLNSGPPSGAMERSPTWGEAAELWGSHILLPFRIRHKQTLFASLK. In isoform A-USO and isoform B-USO.
Literature citations
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
Berthet M.; Denjoy I.; Donger C.; Demay L.; Hammoude H.; Klug D.; Schulze-Bahr E.; Richard P.; Funke H.; Schwartz K.; Coumel P.; Hainque B.; Guicheney P.;
Circulation 99:1464-1470(1999)
Cited for: VARIANT LQT2 LEU-818;
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.