Variant position: 77 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 123 The length of the canonical sequence.
Location on the sequence:
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 IGMFSFIIVAILVSTVKSKR REHSNDPYHQYIVEDWQEKYK
Mouse IGMFSFIVVAILVSTVKSKR REHSQHPYHQYIVEDWQEKYK
Rat IGMFAFIVVAILVSTVKSKR REHSQDPYHQYIVEDWQQKYR
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
1 – 123 Potassium voltage-gated channel subfamily E member 2
70 – 123 Cytoplasmic
75 – 75 K -> H. Increases tail current in KCNH2/KCNE2 channel.
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT6 ILE-14; ASN-20; HIS-27; THR-54; THR-57; LEU-65; GLN-77 AND GLY-94;
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.