Variant position: 1595 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2016 The length of the canonical sequence.
Location on the sequence:
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 CIVKLAALRHYYFTNSWNIF DFVVVILSIVGTVLSDIIQKY
Mouse CIVKMAALRHYYFTNSWNIF DFVVVILSIVGTVLSDIIQKY
Rat CIVKMAALRHYYFTNSWNIF DFVVVILSIVGTVLSDIIQKY
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.
Type Positions Description
1 – 2016 Sodium channel protein type 5 subunit alpha
1590 – 1607 Helical; Name=S3 of repeat IV
1510 – 1807 IV
1573 – 1604 Missing. In isoform 3.
1610 – 1610 D -> A. Complete loss of channel inhibition by the spider toxin Jingzhaotoxin-I.
1610 – 1610 D -> R. High decrease in affinity to the sea anemone toxin anthopleurin-B.
1614 – 1614 K -> A. 4.2-fold decrease of channel inhibition potency by the spider toxin Jingzhaotoxin-I.
Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular conduction block.
Wang D.W.; Viswanathan P.C.; Balser J.R.; George A.L. Jr.; Benson D.W.;
Cited for: CHARACTERIZATION OF VARIANTS PFHB1A SER-298 AND ASN-1595;
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