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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35498: Variant p.Phe1765Leu

Sodium channel protein type 1 subunit alpha
Gene: SCN1A
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Variant information Variant position: help 1765 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 Phenylalanine (F) to Leucine (L) at position 1765 (F1765L, p.Phe1765Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 GEFSP2; disease phenotype consists of partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs; loss-of-function mutation resulting in complete absence of sodium current. Any additional useful information about the variant.


Sequence information Variant position: help 1765 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2009 The length of the canonical sequence.
Location on the sequence: help KVNPGSSVKGDCGNPSVGIF F FVSYIIISFLVVVNMYIAVI 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                         KVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVI

Mouse                         KVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVI

Rat                           KVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVI
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 – 2009 Sodium channel protein type 1 subunit alpha
Transmembrane 1760 – 1788 Helical; Name=S6 of repeat IV
Repeat 1523 – 1821 IV
Helix 1759 – 1792



Literature citations
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao W.P.; Shi Y.W.; Long Y.S.; Zeng Y.; Li T.; Yu M.J.; Su T.; Deng P.; Lei Z.G.; Xu S.J.; Deng W.Y.; Liu X.R.; Sun W.W.; Yi Y.H.; Xu Z.C.; Duan S.;
Epilepsia 51:1669-1678(2010)
Cited for: VARIANTS GEFSP2 HIS-946 AND LEU-1765; CHARACTERIZATION OF VARIANTS GEFSP2 HIS-946 AND LEU-1765;
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.