Sequence information
Variant position: 470 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:
QPLAVVDLIVDIMFIVDILI
N FRTTYVNANEEVVSHPGRIA
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 QPLAVVDLIVDIMFIVDILIN FRTTYVNANEEVVSHPGRIA
Mouse QPLAVVDLIVDIMFIVDILIN FRTTYVNANEEVVSHPGRIA
Rat QPLAVVDLLVDIMFIVDILIN FRTTYVNANEEVVSHPGRIA
Rabbit QPLAVVDLIVDIMFIVDILIN FRTTYVNANEEVVSHPGRIA
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
Transmembrane
451 – 471
Helical; Name=Segment S2
Literature citations
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
Gong Q.; Jones M.A.; Zhou Z.;
J. Biol. Chem. 281:4069-4074(2006)
Cited for: INTERACTION WITH CANX; CHARACTERIZATION OF VARIANT LQT2 ASP-470;
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
Curran M.E.; Splawski I.; Timothy K.W.; Vincent G.M.; Green E.D.; Keating M.T.;
Cell 80:795-803(1995)
Cited for: VARIANTS LQT2 ASP-470; VAL-561 AND SER-628;
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.