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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99250: Variant p.Val208Glu

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position: help 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Valine (V) to Glutamate (E) at position 208 (V208E, p.Val208Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (V) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In BFIS3; gain of function mutation; hyperpolarizing shift of the activation curve. Any additional useful information about the variant.


Sequence information Variant position: help 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2005 The length of the canonical sequence.
Location on the sequence: help RDPWNWLDFTVITFAYVTEF V DLGNVSALRTFRVLRALKTI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTI

Mouse                         RDPWNWLDFTVITFAYVTEFVNLGNVSALRTFRVLRALKTI

Rat                           RNPWNWLDFTVITFAYVTEFVNLGNVSALRTFRVLRALKTI
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 2005 Sodium channel protein type 2 subunit alpha
Transmembrane 191 – 208 Helical; Name=S3 of repeat I
Repeat 111 – 456 I
Glycosylation 212 – 212 N-linked (GlcNAc...) asparagine
Alternative sequence 209 – 209 D -> N. In isoform 2.
Beta strand 207 – 210



Literature citations
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.;
Epilepsia 53:1387-1398(2012)
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 DEE11 ILE-773; CHARACTERIZATION OF VARIANT DEE11 ILE-773;
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.