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UniProtKB/Swiss-Prot Q15858: Variant p.Met1638Lys

Sodium channel protein type 9 subunit alpha
Gene: SCN9A
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Variant information Variant position: help 1638 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 Methionine (M) to Lysine (K) at position 1638 (M1638K, p.Met1638Lys). 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 (M) to large size and basic (K) 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 PEXPD; reduction in fast inactivation leading to persistent sodium current. Any additional useful information about the variant.


Sequence information Variant position: help 1638 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 GRILRLVKGAKGIRTLLFAL M MSLPALFNIGLLLFLVMFIY 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                         GRILRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY

Mouse                         GRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY

Rat                           GRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY

Rabbit                        GRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIY
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
Topological domain 1625 – 1643 Cytoplasmic
Repeat 1497 – 1795 IV
Mutagenesis 1643 – 1643 A -> D. Depolarizes the voltage-dependence of steady-state fast inactivation; enhances persistent current.
Mutagenesis 1643 – 1643 A -> K. No effect on voltage-dependence of steady-state fast inactivation.
Mutagenesis 1643 – 1643 A -> V. No effect on voltage-dependence of steady-state fast inactivation.
Helix 1631 – 1639



Literature citations
SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
Fertleman C.R.; Baker M.D.; Parker K.A.; Moffatt S.; Elmslie F.V.; Abrahamsen B.; Ostman J.; Klugbauer N.; Wood J.N.; Gardiner R.M.; Rees M.;
Neuron 52:767-774(2006)
Cited for: VARIANTS PEXPD CYS-1007; PHE-1309; ASP-1309; PHE-1310; THR-1472; VAL-1473; ILE-1475 AND LYS-1638; CHARACTERIZATION OF VARIANTS PEXPD THR-1472; ILE-1475 AND LYS-1638; FUNCTION;
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.