Variant position: 1327 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 LSRFEGMRVVVNALVGAIPS IMNVLLVCLIFWLIFSIMGVN
Mouse LSRFEGMRVVVNALVGAIPS IMNVLLVCLIFWLIFSIMGVN
Rat LSRFEGMRVVVNALVGAIPS IMNVLLVCLIFWLIFSIMGVN
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
1327 – 1346 Helical; Name=S5 of repeat III
1180 – 1495 III
1284 – 1980 Missing. In isoform 4.
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
Vaher U.; Noukas M.; Nikopensius T.; Kals M.; Annilo T.; Nelis M.; Ounap K.; Reimand T.; Talvik I.; Ilves P.; Piirsoo A.; Seppet E.; Metspalu A.; Talvik T.;
J. Child Neurol. 0:0-0(2013)
Cited for: VARIANT DEE13 VAL-1327;
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS DEE13 THR-408; SER-1323; VAL-1327; SER-1754 AND PRO-1865;
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