Variant position: 859 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2009 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 IVTLSLVELGLANVEGLSVL RSFRLLRVFKLAKSWPTLNML
Mouse IVTLSLVELGLANVEGLSVL RSFRLLRVFKLAKSWPTLNML
Rat IVTLSLVELGLANVEGLSVL RSFRLLRVFKLAKSWPTLNML
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 – 2009 Sodium channel protein type 1 subunit alpha
855 – 872 Helical; Name=S4 of repeat II
750 – 1022 II
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Volkers L.; Kahlig K.M.; Verbeek N.E.; Das J.H.; van Kempen M.J.; Stroink H.; Augustijn P.; van Nieuwenhuizen O.; Lindhout D.; George A.L. Jr.; Koeleman B.P.; Rook M.B.;
Eur. J. Neurosci. 34:1268-1275(2011)
Cited for: VARIANT GEFS+2 HIS-859; VARIANT EIEE6 GLY-865; CHARACTERIZATION OF VARIANT GEFS+2 HIS-859; CHARACTERIZATION OF VARIANTS EIEE6 GLY-865; CYS-946 AND HIS-946;
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.