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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14524: Variant p.Lys817Glu

Sodium channel protein type 5 subunit alpha
Gene: SCN5A
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Variant information Variant position: help 817 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 Lysine (K) to Glutamate (E) at position 817 (K817E, p.Lys817Glu). 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 (K) to medium size and acidic (E) 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 BRGDA1; no effect on localization to the plasma membrane; decreased voltage-gated sodium channel activity; shift in the voltage dependence of activation and changed recovery from inactivation. Any additional useful information about the variant.


Sequence information Variant position: help 817 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2016 The length of the canonical sequence.
Location on the sequence: help GLSRMSNLSVLRSFRLLRVF K LAKSWPTLNTLIKIIGNSVG 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                         GLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVG

Mouse                         GLSRMGNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVG

Rat                           GLSRMGNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVG
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 – 2016 Sodium channel protein type 5 subunit alpha
Transmembrane 807 – 821 Helical; Name=S4 of repeat II
Repeat 699 – 969 II
Glycosylation 803 – 803 N-linked (GlcNAc...) asparagine
Helix 813 – 819



Literature citations
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
Kinoshita K.; Takahashi H.; Hata Y.; Nishide K.; Kato M.; Fujita H.; Yoshida S.; Murai K.; Mizumaki K.; Nishida K.; Yamaguchi Y.; Kano M.; Tabata T.; Nishida N.;
Heart Rhythm 13:1113-1120(2016)
Cited for: VARIANT BRGDA1 GLU-817; CHARACTERIZATION OF VARIANT BRGDA1 GLU-817; FUNCTION;
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.