Sequence information
Variant position: 1872 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:
TKRVLGDSGELDILRQQMEE
R FVASNPSKVSYEPITTTLRR
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 TKRVLGDSGELDILRQQMEER FVASNPSKVSYEPITTTLRR
Mouse TKRVLGDSGELDILRQQMEER FVASNPSKVSYEPITTTLRR
Rat TKRVLGDSGELDILRQQMEER FVASNPSKVSYEPITTTLRR
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
Topological domain
1766 – 1980
Cytoplasmic
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;
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon J.L.; Barker B.S.; Hounshell J.A.; Haaxma C.A.; Shealy A.; Moss T.; Parikh S.; Messer R.D.; Patel M.K.; Meisler M.H.;
Ann. Clin. Transl. Neurol. 3:114-123(2016)
Cited for: VARIANTS DEE13 GLN-1617; GLN-1872; LEU-1872 AND TRP-1872; CHARACTERIZATION OF VARIANTS DEE13 GLN-1617; GLN-1872; LEU-1872 AND TRP-1872; INTERACTION WITH FGF14; GBG3; GBB2 AND SCN1B;
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.