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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99250: Variant p.Lys908Arg

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position: help 908 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Lysine (K) to Arginine (R) at position 908 (K908R, p.Lys908Arg). 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 Similar physico-chemical property. Both residues are large size and basic. 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 908 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2005 The length of the canonical sequence.
Location on the sequence: help LAIIVFIFAVVGMQLFGKSY K ECVCKISNDCELPRWHMHDF 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                         LAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDF

Mouse                         LAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDF

Rat                           LAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHHF

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 – 2005 Sodium channel protein type 2 subunit alpha
Topological domain 899 – 927 Extracellular
Repeat 741 – 1013 II
Site 909 – 909 Binds SCN2B; via carbonyl oxygen
Site 916 – 916 Binds Mu-conotoxin KIIIA; via amide nitrogen
Site 920 – 920 Binds Mu-conotoxin KIIIA; via carbonyl oxygen
Disulfide bond 910 – 910 Interchain; with SCN2B or SCN4B
Disulfide bond 910 – 910 Interchain; with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B; the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin)
Helix 904 – 909



Literature citations
Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
Carroll L.S.; Woolf R.; Ibrahim Y.; Williams H.J.; Dwyer S.; Walters J.; Kirov G.; O'Donovan M.C.; Owen M.J.;
Psychiatr. Genet. 26:60-65(2016)
Cited for: VARIANTS LYS-19; 169-GLU--LYS-2005 DEL; PRO-850; ARG-908; PHE-1282; VAL-1559 AND ALA-1823;
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.