Variant position: 1323 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 PLRALSRFEGMRVVVNALVG AIPSIMNVLLVCLIFWLIFSI
Mouse PLRALSRFEGMRVVVNALVG AIPSIMNVLLVCLIFWLIFSI
Rat PLRALSRFEGMRVVVNALVG AIPSIMNVLLVCLIFWLIFSI
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
1310 – 1326 Cytoplasmic
1180 – 1495 III
1284 – 1980 Missing. In isoform 4.
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;
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.