Variant position: 1295 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2016 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 DFLIVDVSLVSLVANTLGFA EMGPIKSLRTLRALRPLRALS
Mouse DFLIVDVSLVSLVANTLGFA EMGPIKSLRTLRALRPLRALS
Rat DFLIVDVSLVSLVANTLGFA EMGPIKSLRTLRALRPLRALS
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 – 2016 Sodium channel protein type 5 subunit alpha
1290 – 1297 Extracellular
1187 – 1501 III
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
Abriel H.; Cabo C.; Wehrens X.H.; Rivolta I.; Motoike H.K.; Memmi M.; Napolitano C.; Priori S.G.; Kass R.S.;
Circ. Res. 88:740-745(2001)
Cited for: VARIANT LQT3 LYS-1295; CHARACTERIZATION OF VARIANT LQT3 LYS-1295;
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