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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15858: Variant p.Leu869Phe

Sodium channel protein type 9 subunit alpha
Gene: SCN9A
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Variant information Variant position: help 869 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 Leucine (L) to Phenylalanine (F) at position 869 (L869F, p.Leu869Phe). 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 hydrophobic (L) to large size and aromatic (F) 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 PERYTHM; causes a hyperpolarizing shift in channel activation, a depolarizing shift of inactivation and an 18-fold increase in deactivation time compared to wild-type; the mean ramp current amplitude in response to slow depolarization is higher in the mutant channels. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 869 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1988 The length of the canonical sequence.
Location on the sequence: help WPTLNMLIKIIGNSVGALGN L TLVLAIIVFIFAVVGMQLFG 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                         WPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFG

Mouse                         WPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFG

Rat                           WPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFG

Rabbit                        WPTLNMLIKIIGNSVGPLGNLTLVLAIIVFIFAVVGMQLFG
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 – 1988 Sodium channel protein type 9 subunit alpha
Transmembrane 866 – 888 Helical; Name=S5 of repeat II
Repeat 726 – 989 II
Helix 867 – 894



Literature citations
SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
Drenth J.P.; te Morsche R.H.; Guillet G.; Taieb A.; Kirby R.L.; Jansen J.B.;
J. Invest. Dermatol. 124:1333-1338(2005)
Cited for: VARIANTS PERYTHM SER-216; LYS-395; THR-859 AND PHE-869; VARIANT ARG-1161; Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
Han C.; Rush A.M.; Dib-Hajj S.D.; Li S.; Xu Z.; Wang Y.; Tyrrell L.; Wang X.; Yang Y.; Waxman S.G.;
Ann. Neurol. 59:553-558(2006)
Cited for: VARIANT PERYTHM PHE-869; CHARACTERIZATION OF VARIANT PERYTHM PHE-869;
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.