Sequence information
Variant position: 36 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:
LWQETVQQGGNMSGLARRSP
R SSDGKLEALYVLMVLGFFGF
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 LWQETVQQGGNMSG-LARRSPR SSDGKLEALYVLMVLGFFGF
Mouse LWQETAEQGGNVSG-LARKSQL RDDSKLEALYILMVLGFFG
Rat LWQETDEPGGNMSADLARRSQL RDDSKLEALYILMVLGFFG
Pig LWQETDEPGGNMSADLARRSQL RDDSKLEALYILMVLGFFG
Rabbit LGEETAHLQGSSATSLARRGPL GDDGQMEALYILMVLGFFG
Cat LWQGTAHQGGNTSG-LARRSPG GDDSQLEALYILMVLGFFG
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
Site
19 – 19
Interacts with the scolopendra toxin SSD609
Glycosylation
26 – 26
N-linked (GlcNAc...) asparagine
Mutagenesis
19 – 19
E -> K. Loss inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
Mutagenesis
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.
Mutagenesis
32 – 32
R -> D. Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609.
Literature citations
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C.; Priori S.G.; Schwartz P.J.; Bloise R.; Ronchetti E.; Nastoli J.; Bottelli G.; Cerrone M.; Leonardi S.;
JAMA 294:2975-2980(2005)
Cited for: VARIANTS LQT5 HIS-36 AND SER-53;
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.