Sequence information
Variant position: 1592 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1980 The length of the canonical sequence.
Location on the sequence:
KMFALRHYYFTIGWNIFDFV
V VILSIVGMFLADIIEKYFVS
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 KMFALRHYYFTIGWNIFDFVV VILSIVGMFLADIIEKYFVS
Mouse KMFALRHYYFTIGWNIFDFVV VILSIVGMFLADIIEKYFVS
Rat KMFALRHYYFTIGWNIFDFVV VILSIVGMFLADIIEKYFVS
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 – 1980
Sodium channel protein type 8 subunit alpha
Transmembrane
1584 – 1601
Helical; Name=S3 of repeat IV
Repeat
1504 – 1801
IV
Alternative sequence
1284 – 1980
Missing. In isoform 4.
Literature citations
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J.; Carvill G.L.; Gardella E.; Kluger G.; Schmiedel G.; Barisic N.; Depienne C.; Brilstra E.; Mang Y.; Nielsen J.E.; Kirkpatrick M.; Goudie D.; Goldman R.; Jaehn J.A.; Jepsen B.; Gill D.; Doecker M.; Biskup S.; McMahon J.M.; Koeleman B.; Harris M.; Braun K.; de Kovel C.G.; Marini C.; Specchio N.; Djemie T.; Weckhuysen S.; Tommerup N.; Troncoso M.; Troncoso L.; Bevot A.; Wolff M.; Hjalgrim H.; Guerrini R.; Scheffer I.E.; Mefford H.C.; Moeller R.S.;
Neurology 84:480-489(2015)
Cited for: VARIANTS DEE13 ARG-215; SER-260; LEU-410; VAL-479; THR-890; ASP-960; VAL-1331; VAL-1479; LEU-1592; ARG-1605; GLN-1617; THR-1650; GLU-1801; GLN-1872 AND TRP-1872;
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.