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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35498: Variant p.Trp1204Arg

Sodium channel protein type 1 subunit alpha
Gene: SCN1A
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Variant information Variant position: help 1204 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 Tryptophan (W) to Arginine (R) at position 1204 (W1204R, p.Trp1204Arg). 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 (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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; causes hyperpolarized shifts in the voltage dependence of activation and steady-state inactivation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1204 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 GCVQRFKCCQINVEEGRGKQ W WNLRRTCFRIVEHNWFETFI 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                         GCVQRFKCCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFI

Mouse                         GCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFI

Rat                           GCVQRFKCCQISVEEGRGKQWWNLRRTCFRIVEHNWFETFI
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
Topological domain 993 – 1218 Cytoplasmic
Repeat 1200 – 1514 III
Helix 1204 – 1215



Literature citations
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy.
Escayg A.; Heils A.; MacDonald B.T.; Haug K.; Sander T.; Meisler M.H.;
Am. J. Hum. Genet. 68:866-873(2001)
Cited for: VARIANT GEFSP2 ARG-1204; Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.
Spampanato J.; Escayg A.; Meisler M.H.; Goldin A.L.;
Neuroscience 116:37-48(2003)
Cited for: CHARACTERIZATION OF VARIANT GEFSP2 ARG-1204; Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C.; Mei D.; Temudo T.; Ferrari A.R.; Buti D.; Dravet C.; Dias A.I.; Moreira A.; Calado E.; Seri S.; Neville B.; Narbona J.; Reid E.; Michelucci R.; Sicca F.; Cross H.J.; Guerrini R.;
Epilepsia 48:1678-1685(2007)
Cited for: VARIANTS DRVT GLN-101; ILE-322; GLY-356; THR-358; CYS-393; HIS-393; LEU-957; TYR-1414; TRP-1470; ARG-1588; TYR-1608; MET-1630; ARG-1658; ARG-1716; VAL-1783 AND LYS-1787; VARIANTS GEFSP2 PRO-74; ARG-1204 AND SER-1687;
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.