Sequence information
Variant position: 612 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:
QIGKPYNSSGLGGPSIKDKY
V TALYFTFSSLTSVGFGNVSP
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 QIGKPYNSSGLGGPSIKDKYV TALYFTFSSLTSVGFGNVSP
Mouse QIGKPYNSSGLGGPSIKDKYV TALYFTFSSLTSVGFGNVSP
Rat QIGKPYNSSGLGGPSIKDKYV TALYFTFSSLTSVGFGNVSP
Rabbit QMGKPYNSSGLGGPSIKDKYV TGLYFTFSSLTSVGFGNVSP
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
Glycosylation
598 – 598
N-linked (GlcNAc...) asparagine
Mutagenesis
598 – 598
N -> Q. No effect on cell surface expression, but changes inactivation kinetics; when associated with A-631.
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
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
Satler C.A.; Vesely M.R.; Duggal P.; Ginsburg G.S.; Beggs A.H.;
Hum. Genet. 102:265-272(1998)
Cited for: VARIANTS LQT2 LEU-612; VAL-614; ASP-629; SER-629 AND SER-633;
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.