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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35499: Variant p.Thr1313Met

Sodium channel protein type 4 subunit alpha
Gene: SCN4A
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Variant information Variant position: help 1313 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 Methionine (M) at position 1313 (T1313M, p.Thr1313Met). 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 (M) 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 PMC; changes the voltage-gated sodium channel activity; increases membrane hyperexcitability at low temperature; decreases channel activation, deactivation, fast inactivation and recovery delay from fast inactivation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1836 The length of the canonical sequence.
Location on the sequence: help VIIDNFNQQKKKLGGKDIFM T EEQKKYYNAMKKLGSKKPQK 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                         VIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKKPQK

Mouse                         VIIDNFNQQKKKFGGKDIFMTEEQKKYYNAMKKLGSKKPQK

Rat                           VIIDNFNQQKKKFGGKDIFMTEEQKKYYNAMKKLGSKKPQK

Horse                         LIIVNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKKPQK
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 – 1836 Sodium channel protein type 4 subunit alpha
Topological domain 1292 – 1354 Cytoplasmic
Repeat 1013 – 1326 III



Literature citations
Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
McClatchey A.I.; van den Bergh P.; Pericak-Vance M.A.; Raskind W.; Verellen C.; McKenna-Yasek D.; Rao K.; Haines J.L.; Bird T.; Brown R.H. Jr.; Gusella J.F.;
Cell 68:769-774(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1305-1339; VARIANTS PMC VAL-1306 AND MET-1313; Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
Dice M.S.; Abbruzzese J.L.; Wheeler J.T.; Groome J.R.; Fujimoto E.; Ruben P.C.;
Muscle Nerve 30:277-288(2004)
Cited for: VARIANTS PMC MET-1313 AND CYS-1448; CHARACTERIZATION OF VARIANTS PMC MET-1313 AND CYS-1448; FUNCTION; TRANSPORTER ACTIVITY; 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.