Variant position: 1598 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:
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 HYYFTIGWNIFDFVVVILSI VGMFLADIIEKYFVSPTLFRV
Mouse HYYFTIGWNIFDFVVVILSI VGMFLADIIEKYFVSPTLFRV
Rat HYYFTIGWNIFDFVVVILSI VGMFLADIIEKYFVSPTLFRV
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 – 1980 Sodium channel protein type 8 subunit alpha
1584 – 1601 Helical; Name=S3 of repeat IV
1504 – 1801 IV
1284 – 1980 Missing. In isoform 4.
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
Wang J.; Gao H.; Bao X.; Zhang Q.; Li J.; Wei L.; Wu X.; Chen Y.; Yu S.;
BMC Med. Genet. 18:104-104(2017)
Cited for: VARIANTS EIEE13 PRO-232; GLU-850; MET-891; ARG-1475; ALA-1598; TRP-1872 AND SER-1877;
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