Variant position: 28 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:
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 AVTPFLTKLWQETVQQGGNM SG-LARRSPRSSDGKLEALYVL
Mouse TVLPFLARLWQETAEQGGNV SG-LARKSQLRDDSKLEALYI
Rat TVLPFLASLWQETDEPGGNM SADLARRSQLRDDSKLEALYI
Pig TVLPFLASLWQETDEPGGNM SADLARRSQLRDDSKLEALYI
Rabbit AVMPFLTTLGEETAHLQGSS ATSLARRGPLGDDGQMEALYI
Cat ATTPFLNALWQGTAHQGGNT SG-LARRSPGGDDSQLEALYI
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 – 129 Potassium voltage-gated channel subfamily E member 1
19 – 19 Interacts with the scolopendra toxin SSD609
26 – 26 N-linked (GlcNAc...) asparagine
15 – 15 K -> D. No change in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
19 – 19 E -> K. Loss inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
28 – 28 S -> T. No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with Q-5. 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with A-7.
32 – 32 R -> D. Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
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;
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.