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UniProtKB/Swiss-Prot Q99250: Variant p.Phe328Val

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

Variant position:  328
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Phenylalanine (F) to Valine (V) at position 328 (F328V, p.Phe328Val).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Found in a patient with acute encephalopathy with biphasic seizures, late reduced diffusion and in a patient with Dravet syndrome; unknown pathological significance.
Any additional useful information about the variant.

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

Sequence information

Variant position:  328
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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.



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.

Chain 1 – 2005 Sodium channel protein type 2 subunit alpha
Topological domain 271 – 369 Extracellular
Repeat 111 – 456 I
Glycosylation 308 – 308 N-linked (GlcNAc...) asparagine
Glycosylation 340 – 340 N-linked (GlcNAc...) asparagine
Disulfide bond 278 – 347

Literature citations

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
Kimura K.; Sugawara T.; Mazaki-Miyazaki E.; Hoshino K.; Nomura Y.; Tateno A.; Hachimori K.; Yamakawa K.; Segawa M.;
Brain Dev. 27:424-430(2005)
Cited for: VARIANT VAL-328;

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
Shi X.; Yasumoto S.; Nakagawa E.; Fukasawa T.; Uchiya S.; Hirose S.;
Brain Dev. 31:758-762(2009)
Cited for: VARIANTS ASN-322 AND VAL-328; VARIANT EIEE11 THR-1312;

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)

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;

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
Saitoh M.; Ishii A.; Ihara Y.; Hoshino A.; Terashima H.; Kubota M.; Kikuchi K.; Yamanaka G.; Amemiya K.; Hirose S.; Mizuguchi M.;
Epilepsy Res. 117:1-6(2015)
Cited for: VARIANTS VAL-172 AND VAL-328;

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.