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UniProtKB/Swiss-Prot P35498: Variant p.Tyr426Asn

Sodium channel protein type 1 subunit alpha
Gene: SCN1A
Variant information

Variant position:  426
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Tyrosine (Y) to Asparagine (N) at position 426 (Y426N, p.Tyr426Asn).
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 (Y) to medium size and polar (N)
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

Variant description:  In DRVT; results in decreased peak current densities; causes a negative shift in the half-maximal steady-state inactivation and delayed recovery from fast inactivation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  426
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2009
The length of the canonical sequence.

Location on the sequence:   VIFLGSFYLINLILAVVAMA  Y EEQNQATLEEAEQKEAEFQQ
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                         VIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQ

Mouse                         VIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQ

Rat                           VIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQ

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 – 2009 Sodium channel protein type 1 subunit alpha
Topological domain 421 – 768 Cytoplasmic
Repeat 110 – 454 I


Literature citations

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R.; Gennaro E.; Dalla Bernardina B.; Dulac O.; Madia F.; Bertini E.; Capovilla G.; Chiron C.; Cristofori G.; Elia M.; Fontana E.; Gaggero R.; Granata T.; Guerrini R.; Loi M.; La Selva L.; Lispi M.L.; Matricardi A.; Romeo A.; Tzolas V.; Valseriati D.; Veggiotti P.; Vigevano F.; Vallee L.; Dagna Bricarelli F.; Bianchi A.; Zara F.;
Neurology 60:1961-1967(2003)
Cited for: VARIANTS DRVT ASP-78; GLU-177; SER-227; ARG-280; ILE-297; ASN-426; ARG-1233; ILE-1461; SER-1463; ALA-1668; THR-1780 AND 1812-TRP--LYS-1815 DELINS CYS;

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi M.M.; Striano P.; Gennaro E.; Madia F.; Paravidino R.; Scapolan S.; Dalla Bernardina B.; Bertini E.; Bianchi A.; Capovilla G.; Darra F.; Elia M.; Freri E.; Gobbi G.; Granata T.; Guerrini R.; Pantaleoni C.; Parmeggiani A.; Romeo A.; Santucci M.; Vecchi M.; Veggiotti P.; Vigevano F.; Pistorio A.; Gaggero R.; Zara F.;
Epilepsia 47:1629-1635(2006)
Cited for: VARIANTS DRVT ASP-78; PRO-162; ASN-194; LYS-217; SER-227; ARG-280; LEU-383; CYS-393; SER-393; ASN-426; ARG-812; LYS-846; PRO-942; ARG-1233; GLN-1245; CYS-1422; ARG-1426; LEU-1451; SER-1463; SER-1475; ALA-1668; ARG-1714; GLU-1762; PHE-1773 AND THR-1780;

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
Ohmori I.; Kahlig K.M.; Rhodes T.H.; Wang D.W.; George A.L. Jr.;
Epilepsia 47:1636-1642(2006)
Cited for: CHARACTERIZATION OF VARIANTS DRVT GLU-177; SER-227; HIS-393; ASN-426; GLN-939; ARG-959; PHE-1289 DEL AND ILE-1909;

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.