Sequence information
Variant position: 1769 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2000 The length of the canonical sequence.
Location on the sequence:
FFFVSYIIISFLVVVNMYIA
V ILENFSVATEESAEPLSEDD
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 FFFVSYIIISFLVVVNMYIAV ILENFSVATEESAEPLSEDD
Mouse FFFVSYIIISFLVVVNMYIAV ILENFSVATEESAEPLSEDD
Rat FFFVSYIIISFLVVVNMYIAV ILENFSVATEESAEPLSEDD
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 – 2000
Sodium channel protein type 3 subunit alpha
Transmembrane
1748 – 1770
Helical; Name=S6 of repeat IV
Repeat
1508 – 1806
IV
Literature citations
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman T.; Helbig I.; Bozovic I.B.; DeBrosse S.D.; Bergqvist A.C.; Wallis K.; Medne L.; Maver A.; Peterlin B.; Helbig K.L.; Zhang X.; Goldberg E.M.;
Ann. Neurol. 83:703-717(2018)
Cited for: INVOLVEMENT IN DEE62; VARIANTS DEE62 THR-875; LEU-1333; CYS-1642; ALA-1769 AND GLN-1799; CHARACTERIZATION OF VARIANTS DEE62 THR-875; LEU-1333; CYS-1642; ALA-1769 AND GLN-1799; FUNCTION;
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.