Sequence information
Variant position: 630 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:
KYVTALYFTFSSLTSVGFGN
V SPNTNSEKIFSICVMLIGSL
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 KYVTALYFTFSSLTSVGFGNV SPNTNSEKIFSICVMLIGSL
Mouse KYVTALYFTFSSLTSVGFGNV SPNTNSEKIFSICVMLIGSL
Rat KYVTALYFTFSSLTSVGFGNV SPNTNSEKIFSICVMLIGSL
Rabbit KYVTGLYFTFSSLTSVGFGNV SPNTNSEKIFSICVMLIGSL
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
Intramembrane
612 – 632
Pore-forming; Name=Segment H5
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
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
Splawski I.; Shen J.; Timothy K.W.; Vincent G.M.; Lehmann M.H.; Keating M.T.;
Genomics 51:86-97(1998)
Cited for: VARIANTS LQT2 CYS-572; ASP-588; VAL-614 AND ALA-630;
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.