Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQD0: Variant p.Arg1617Gln

Sodium channel protein type 8 subunit alpha
Gene: SCN8A
Feedback?
Variant information Variant position: help 1617 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glutamine (Q) at position 1617 (R1617Q, p.Arg1617Gln). 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: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In DEE13; gain-of-function mutation; increased voltage-gated sodium channel activity; impaired channel inactivation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1617 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1980 The length of the canonical sequence.
Location on the sequence: help IVGMFLADIIEKYFVSPTLF R VIRLARIGRILRLIKGAKGI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGI

Mouse                         IVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGI

Rat                           IVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGI
Sequence annotation in neighborhood: help 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
Transmembrane 1615 – 1631 Helical; Name=S4 of repeat IV
Repeat 1504 – 1801 IV
Alternative sequence 1284 – 1980 Missing. In isoform 4.



Literature citations
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C.; Kato M.; Takahashi S.; Lerman-Sagie T.; Lev D.; Terashima H.; Kubota M.; Kawawaki H.; Matsufuji M.; Kojima Y.; Tateno A.; Goldberg-Stern H.; Straussberg R.; Marom D.; Leshinsky-Silver E.; Nakashima M.; Nishiyama K.; Tsurusaki Y.; Miyake N.; Tanaka F.; Matsumoto N.; Saitsu H.;
Epilepsia 55:994-1000(2014)
Cited for: VARIANTS DEE13 ASP-216; SER-846; LYS-1466; THR-1466; GLN-1617; THR-1650 AND TRP-1872; SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
Kong W.; Zhang Y.; Gao Y.; Liu X.; Gao K.; Xie H.; Wang J.; Wu Y.; Zhang Y.; Wu X.; Jiang Y.;
Epilepsia 56:431-438(2015)
Cited for: VARIANTS DEE13 PHE-407; GLN-850; THR-890; CYS-1596 AND GLN-1617; The phenotypic spectrum of SCN8A encephalopathy.
Larsen J.; Carvill G.L.; Gardella E.; Kluger G.; Schmiedel G.; Barisic N.; Depienne C.; Brilstra E.; Mang Y.; Nielsen J.E.; Kirkpatrick M.; Goudie D.; Goldman R.; Jaehn J.A.; Jepsen B.; Gill D.; Doecker M.; Biskup S.; McMahon J.M.; Koeleman B.; Harris M.; Braun K.; de Kovel C.G.; Marini C.; Specchio N.; Djemie T.; Weckhuysen S.; Tommerup N.; Troncoso M.; Troncoso L.; Bevot A.; Wolff M.; Hjalgrim H.; Guerrini R.; Scheffer I.E.; Mefford H.C.; Moeller R.S.;
Neurology 84:480-489(2015)
Cited for: VARIANTS DEE13 ARG-215; SER-260; LEU-410; VAL-479; THR-890; ASP-960; VAL-1331; VAL-1479; LEU-1592; ARG-1605; GLN-1617; THR-1650; GLU-1801; GLN-1872 AND TRP-1872; Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
Wagnon J.L.; Barker B.S.; Hounshell J.A.; Haaxma C.A.; Shealy A.; Moss T.; Parikh S.; Messer R.D.; Patel M.K.; Meisler M.H.;
Ann. Clin. Transl. Neurol. 3:114-123(2016)
Cited for: VARIANTS DEE13 GLN-1617; GLN-1872; LEU-1872 AND TRP-1872; CHARACTERIZATION OF VARIANTS DEE13 GLN-1617; GLN-1872; LEU-1872 AND TRP-1872; FUNCTION; INTERACTION WITH FGF14; GBG3; GBB2 AND SCN1B;
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.