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UniProtKB/Swiss-Prot Q9UQD0: Variant p.Asn1877Ser

Sodium channel protein type 8 subunit alpha
Gene: SCN8A
Variant information

Variant position:  1877
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 Asparagine (N) to Serine (S) at position 1877 (N1877S, p.Asn1877Ser).
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 medium size and polar (N) to small size and polar (S)
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:  In DEE13 and BFIS5; also found in a patient with drug-resistant focal epilepsy and mild intellectual disability.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1877
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1980
The length of the canonical sequence.

Location on the sequence:   GDSGELDILRQQMEERFVAS  N PSKVSYEPITTTLRRKQEEV
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                         GDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEV

Mouse                         GDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEV

Rat                           GDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEV

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 – 1980 Sodium channel protein type 8 subunit alpha
Topological domain 1766 – 1980 Cytoplasmic
Alternative sequence 1284 – 1980 Missing. In isoform 4.


Literature citations

Autosomal dominant SCN8A mutation with an unusually mild phenotype.
Anand G.; Collett-White F.; Orsini A.; Thomas S.; Jayapal S.; Trump N.; Zaiwalla Z.; Jayawant S.;
Eur. J. Paediatr. Neurol. 20:761-765(2016)
Cited for: VARIANT DEE13 SER-1877; VARIANT BFIS5 SER-1877;

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
Wang J.; Gao H.; Bao X.; Zhang Q.; Li J.; Wei L.; Wu X.; Chen Y.; Yu S.;
BMC Med. Genet. 18:104-104(2017)
Cited for: VARIANTS DEE13 PRO-232; GLU-850; MET-891; ARG-1475; ALA-1598; TRP-1872 AND SER-1877;

Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017)
Cited for: VARIANTS DEE13 SER-307; GLY-978; ARG-1475; THR-1650 AND TRP-1872; VARIANT SER-1877;

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.