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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35499: Variant p.Phe1705Ile

Sodium channel protein type 4 subunit alpha
Gene: SCN4A
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Variant information Variant position: help 1705 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 Isoleucine (I) at position 1705 (F1705I, p.Phe1705Ile). 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 (I) 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 PMC; increases the extent of charge immobilization in response to strong depolarization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1705 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 KEVLGDSGEMDALKQTMEEK F MAANPSKVSYEPITTTLKRK 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                         KEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRK

Mouse                         KEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRK

Rat                           KEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRK

Horse                         KEVLGDSGEMDALKETMEEKFMAANPSKVSYEPITTTLKRK
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 1598 – 1836 Cytoplasmic
Helix 1692 – 1705



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;
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.