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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99250: Variant p.Thr773Ile

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position: help 773 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 Threonine (T) to Isoleucine (I) at position 773 (T773I, p.Thr773Ile). 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 polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 DEE11; hyperpolarizing shift of the activation curve and increased persitent current; gain of function. Any additional useful information about the variant.


Sequence information Variant position: help 773 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 NLVVMDPFVDLAITICIVLN T LFMAMEHYPMTEQFSSVLSV 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                         NLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSV

Mouse                         NLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSV

Rat                           NLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSV
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 760 – 778 Helical; Name=S1 of repeat II
Repeat 741 – 1013 II
Helix 763 – 777



Literature citations
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.