Sequence information
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:
CIVKLAALRHYYFTNSWNIF
D FVVVILSIVGTVLSDIIQKY
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 CIVKLAALRHYYFTNSWNIFD FVVVILSIVGTVLSDIIQKY
Mouse CIVKMAALRHYYFTNSWNIFD FVVVILSIVGTVLSDIIQKY
Rat CIVKMAALRHYYFTNSWNIFD FVVVILSIVGTVLSDIIQKY
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
Chain
1 – 2016
Sodium channel protein type 5 subunit alpha
Transmembrane
1590 – 1607
Helical; Name=S3 of repeat IV
Repeat
1510 – 1807
IV
Alternative sequence
1573 – 1604
Missing. In isoform 3.
Mutagenesis
1610 – 1610
D -> A. Complete loss of channel inhibition by the spider Jingzhaotoxin-I.
Mutagenesis
1610 – 1610
D -> R. High decrease in affinity to the sea anemone toxin anthopleurin-B.
Mutagenesis
1614 – 1614
K -> A. 4.2-fold decrease of channel inhibition potency by the spider Jingzhaotoxin-I.
Literature citations
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.;
Circulation 105:341-346(2002)
Cited for: CHARACTERIZATION OF VARIANTS PFHB1A SER-298 AND ASN-1595;
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.