Variant position: 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2005 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 RDPWNWLDFTVITFAYVTEF VDLGNVSALRTFRVLRALKTI
Mouse RDPWNWLDFTVITFAYVTEF VNLGNVSALRTFRVLRALKTI
Rat RNPWNWLDFTVITFAYVTEF VNLGNVSALRTFRVLRALKTI
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 – 2005 Sodium channel protein type 2 subunit alpha
191 – 208 Helical; Name=S3 of repeat I
111 – 456 I
212 – 212 N-linked (GlcNAc...) asparagine
209 – 209 D -> N. In isoform 2.
207 – 210
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke J.R.; Riesch E.; Scheurenbrand T.; Schubach M.; Wilhelm C.; Steiner I.; Hansen J.; Courage C.; Gallati S.; Buerki S.; Strozzi S.; Simonetti B.G.; Grunt S.; Steinlin M.; Alber M.; Wolff M.; Klopstock T.; Prott E.C.; Lorenz R.; Spaich C.; Rona S.; Lakshminarasimhan M.; Kroell J.; Dorn T.; Kraemer G.; Synofzik M.; Becker F.; Weber Y.G.; Lerche H.; Boehm D.; Biskup S.;
Cited for: VARIANT BFIS3 GLU-208;
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S.; Verbeek N.E.; Liu Y.; Zaichuk M.; Mueller S.; Lemke J.R.; van Kempen M.J.A.; Lerche H.; Hedrich U.B.S.;
Hum. Mutat. 39:1942-1956(2018)
Cited for: VARIANTS BFIS3 GLU-208 AND GLU-908; CHARACTERIZATION OF VARIANTS BFIS3 GLU-208 AND GLU-908; VARIANT EIEE11 ILE-773; CHARACTERIZATION OF VARIANT EIEE11 ILE-773;
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.