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UniProtKB/Swiss-Prot P35499: Variant p.Phe1473Ser

Sodium channel protein type 4 subunit alpha
Gene: SCN4A
Variant information

Variant position:  1473
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Serine (S) at position 1473 (F1473S, p.Phe1473Ser).
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:  Change from large size and aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge.
Any additional useful information about the variant.



Sequence information

Variant position:  1473
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1836
The length of the canonical sequence.

Location on the sequence:   ARIGRVLRLIRGAKGIRTLL  F ALMMSLPALFNIGLLLFLVM
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                         ARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVM

Mouse                         ARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVM

Rat                           ARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVM

Horse                         ARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLILVM

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.

TypePositionsDescription
Chain 1 – 1836 Sodium channel protein type 4 subunit alpha
Topological domain 1463 – 1481 Cytoplasmic
Repeat 1335 – 1633 IV
Helix 1468 – 1503


Literature citations

Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
Groome J.R.; Larsen M.F.; Coonts A.;
Channels 2:39-50(2008)
Cited for: CHARACTERIZATION OF VARIANTS PMC SER-1473 AND ILE-1705; FUNCTION; SUBCELLULAR LOCATION;

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E.; Tan S.V.; Fialho D.; Sweeney M.G.; Sud R.; Haworth A.; Stanley E.; Cea G.; Davis M.B.; Hanna M.G.;
Neurology 70:50-53(2008)
Cited for: VARIANTS PMC LYS-270; MET-704; ALA-1306; GLU-1306; MET-1313; PRO-1436; CYS-1448; HIS-1448; LEU-1448; GLU-1456; SER-1473 AND MET-1589;

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.