Home  |  Contact

UniProtKB/Swiss-Prot Q99250: Variant p.Arg19Lys

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
Chromosomal location: 2q23-q24
Variant information

Variant position:  19
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Lysine (K) at position 19 (R19K, p.Arg19Lys).
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:  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:  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:  
Links to websites of interest for the variant.



Sequence information

Variant position:  19
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2005
The length of the canonical sequence.

Location on the sequence:   MAQSVLVPPGPDSFRFFT  R ESLAAIEQRIAEEKAKRPKQ
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQ

Rat                           MARSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQ

Sequence annotation in neighborhood:  
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 1 – 129 Cytoplasmic
Modified residue 4 – 4 Phosphoserine
Cross 38 – 38 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)


Literature citations

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Sugawara T.; Tsurubuchi Y.; Agarwala K.L.; Ito M.; Fukuma G.; Mazaki-Miyazaki E.; Nagafuji H.; Noda M.; Imoto K.; Wada K.; Mitsudome A.; Kaneko S.; Montal M.; Nagata K.; Hirose S.; Yamakawa K.;
Proc. Natl. Acad. Sci. U.S.A. 98:6384-6389(2001)
Cited for: VARIANT BFIS3 TRP-188; CHARACTERIZATION OF VARIANT BFIS3 TRP-188; VARIANTS LYS-19 AND GLN-524;

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss L.A.; Escayg A.; Kearney J.A.; Trudeau M.; MacDonald B.T.; Mori M.; Reichert J.; Buxbaum J.D.; Meisler M.H.;
Mol. Psychiatry 8:186-194(2003)
Cited for: VARIANTS LYS-19 AND THR-1902;

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
Ogiwara I.; Ito K.; Sawaishi Y.; Osaka H.; Mazaki E.; Inoue I.; Montal M.; Hashikawa T.; Shike T.; Fujiwara T.; Inoue Y.; Kaneda M.; Yamakawa K.;
Neurology 73:1046-1053(2009)
Cited for: VARIANTS EIEE11 LYS-1211 AND MET-1473; VARIANTS LYS-19; VAL-328; GLN-524 AND VAL-575; CHARACTERIZATION OF VARIANTS EIEE11 LYS-1211 AND MET-1473; CHARACTERIZATION OF VARIANT VAL-575;

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang J.W.; Shi X.Y.; Kurahashi H.; Hwang S.K.; Ishii A.; Higurashi N.; Kaneko S.; Hirose S.;
Epilepsy Res. 102:195-200(2012)
Cited for: VARIANTS LYS-19; ASN-322; VAL-328 AND ASN-649; VARIANT EIEE11 THR-1312;

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.