Sequence information
Variant position: 67 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 129 The length of the canonical sequence.
Location on the sequence:
VLMVLGFFGFFTLGIMLSYI
R SKKLEHSNDPFNVYIESDAW
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 VLMVLGFFGFFTLGIMLSYIR SKKLEHSNDPFNVYIESDAW
Mouse ILMVLGFFGFFTLGIMLSYIR SKKLEHSHDPFNVYIESDAW
Rat ILMVLGFFGFFTLGIMLSYIR SKKLEHSHDPFNVYIESDAW
Pig ILMVLGFFGFFTLGIMLSYIR SKKLEHSHDPFNVYIESDAW
Rabbit ILMVLGFFGFFTLGIMLSYIR SQKLEHSHDPFNVYIEANDW
Cat ILMVLGFFGFFTLGIMLSYIR SKKLEHSHDPFNVYIESDTW
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 – 129
Potassium voltage-gated channel subfamily E member 1
Topological domain
67 – 129
Cytoplasmic
Mutagenesis
69 – 69
K -> H. Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.
Helix
46 – 71
Literature citations
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 LQT5 VAL-8; MET-10; LEU-28; HIS-32; SER-55; PRO-58; PRO-59; CYS-67; HIS-67; MET-70; ASN-76; LYS-83 AND MET-125;
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.