Sequence information
Variant position: 1754 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:
GDCGNPSVGIFFFVSYIIIS
F LIVVNMYIAIILENFSVATE
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 GDCGNPSVGIFFFVSYIIISF LIVVNMYIAIILENFSVATE
Mouse GDCGNPSVGIFFFVSYIIISF LIVVNMYIAIILENFSVATE
Rat GDCGNPSVGIFFFVSYIIISF LIVVNMYIAIILENFSVATE
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
Transmembrane
1743 – 1765
Helical; Name=S6 of repeat IV
Repeat
1504 – 1801
IV
Alternative sequence
1284 – 1980
Missing. In isoform 4.
Literature citations
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;
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.