UniProtKB/Swiss-Prot Q99250: Variant p.Arg19Lys

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position:

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

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:

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.

Variant rs17183814 [ dbSNP | Ensembl ]

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

Mouse                         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.

Type	Positions	Description
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 DEE11 LYS-1211 AND MET-1473; VARIANTS LYS-19; VAL-328; GLN-524 AND VAL-575; CHARACTERIZATION OF VARIANTS DEE11 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 DEE11 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.