Sequence information
Variant position: 216 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:
WLDFSVIMMAYITEFVNLGN
V SALRTFRVLRALKTISVIPG
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 WLDFSVIMMAYITEFVNLGNV SALRTFRVLRALKTISVIPG
Mouse WLDFSVIMMAYVTEFVDLGNV SALRTFRVLRALKTISVIPG
Rat WLDFSVIMMAYVTEFVDLGNV SALRTFRVLRALKTISVIPG
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
212 – 217
Extracellular
Repeat
114 – 442
I
Glycosylation
215 – 215
N-linked (GlcNAc...) asparagine
Alternative sequence
207 – 207
I -> V. In isoform 2.
Alternative sequence
212 – 212
N -> D. In isoform 2.
Literature citations
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C.; Kato M.; Takahashi S.; Lerman-Sagie T.; Lev D.; Terashima H.; Kubota M.; Kawawaki H.; Matsufuji M.; Kojima Y.; Tateno A.; Goldberg-Stern H.; Straussberg R.; Marom D.; Leshinsky-Silver E.; Nakashima M.; Nishiyama K.; Tsurusaki Y.; Miyake N.; Tanaka F.; Matsumoto N.; Saitsu H.;
Epilepsia 55:994-1000(2014)
Cited for: VARIANTS DEE13 ASP-216; SER-846; LYS-1466; THR-1466; GLN-1617; THR-1650 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.