Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14524: Variant p.Gly1748Asp

Sodium channel protein type 5 subunit alpha
Gene: SCN5A
Feedback?
Variant information Variant position: help 1748 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 Glycine (G) to Aspartate (D) at position 1748 (G1748D, p.Gly1748Asp). 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 glycine (G) to medium size and acidic (D) 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; decreased localization to the plasma membrane; decreased voltage-gated sodium channel activity; dominant negative effect; changed voltage dependence for activation and inactivation. Any additional useful information about the variant.


Sequence information Variant position: help 1748 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 CDPTLPNSNGSRGDCGSPAV G ILFFTTYIIISFLIVVNMYI 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                         CDPTLPNSNGSRGDCGSPAVGILFFTTYIIISFLIVVNMYI

Mouse                         CDPNLPNSNGSRGNCGSPAVGILFFTTYIIISFLIVVNMYI

Rat                           CDPNLPNSNGSRGNCGSPAVGILFFTTYIIISFLIVVNMYI
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
Topological domain 1720 – 1748 Extracellular
Repeat 1510 – 1807 IV
Glycosylation 1736 – 1736 N-linked (GlcNAc...) asparagine
Helix 1745 – 1780



Literature citations
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
Nunez L.; Barana A.; Amoros I.; de la Fuente M.G.; Dolz-Gaiton P.; Gomez R.; Rodriguez-Garcia I.; Mosquera I.; Monserrat L.; Delpon E.; Caballero R.; Castro-Beiras A.; Tamargo J.;
Heart Rhythm 10:264-272(2013)
Cited for: VARIANT ARG-558; VARIANTS BRGDA1 ASN-1690 AND ASP-1748; CHARACTERIZATION OF VARIANTS BRGDA1 ASN-1690 AND ASP-1748; FUNCTION; SUBCELLULAR LOCATION;
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.