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:
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-LARRSP RSSDGKLEALYVLMVLGFFGF
Mouse LWQETAEQGGNVSG-LARKSQ LRDDSKLEALYILMVLGFFG
Rat LWQETDEPGGNMSADLARRSQ LRDDSKLEALYILMVLGFFG
Pig LWQETDEPGGNMSADLARRSQ LRDDSKLEALYILMVLGFFG
Rabbit LGEETAHLQGSSATSLARRGP LGDDGQMEALYILMVLGFFG
Cat LWQGTAHQGGNTSG-LARRSP GGDDSQLEALYILMVLGFFG
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
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.
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.;
Cited for: VARIANTS LQT5 HIS-36 AND SER-53;
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