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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35499: Variant p.Gly1306Glu

Sodium channel protein type 4 subunit alpha
Gene: SCN4A
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Variant information Variant position: help 1306 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 Glycine (G) to Glutamate (E) at position 1306 (G1306E, p.Gly1306Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In MYOSCN4A and PMC; severe. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1306 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 TLNLFIGVIIDNFNQQKKKL G GKDIFMTEEQKKYYNAMKKL 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                         TLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKL

Mouse                         TLNLFIGVIIDNFNQQKKKFGGKDIFMTEEQKKYYNAMKKL

Rat                           TLNLFIGVIIDNFNQQKKKFGGKDIFMTEEQKKYYNAMKKL

Horse                         TINSLIRLIIVNFNQQKKKLGGKDIFMTEEQKKYYNAMKKL
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
Beta strand 1305 – 1309



Literature citations
Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.
Lerche H.; Heine R.; Pika U.; George A.L. Jr.; Mitrovic N.; Browatzki M.; Weiss T.; Rivet-Bastide M.; Franke C.; Lomonaco M.; Ricker K.; Lehmann-Horn F.;
J. Physiol. (Lond.) 470:13-22(1993)
Cited for: VARIANTS PMC ALA-1306; GLU-1306 AND VAL-1306; Autosomal dominant monosymptomatic myotonia permanens.
Colding-Joergensen E.; Duno M.; Vissing J.;
Neurology 67:153-155(2006)
Cited for: VARIANT MYOSCN4A GLU-1306; 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; Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy.
Lee S.C.; Kim H.S.; Park Y.E.; Choi Y.C.; Park K.H.; Kim D.S.;
J. Clin. Neurol. 5:186-191(2009)
Cited for: VARIANTS MYOSCN4A TRP-225; THR-1156 AND GLU-1306; VARIANT PMC THR-693; VARIANT HYPP THR-1156;
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.