Variant position: 1795 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 FSVATEESTEPLSEDDFDMF YEIWEKFDPEATQFIEYSVLS
Mouse FSVATEESTEPLSEDDFDMF YEIWEKFDPEATQFIEYLALS
Rat FSVATEESTEPLSEDDFDMF YEIWEKFDPEATQFIEYLALS
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.
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
Rivolta I.; Abriel H.; Tateyama M.; Liu H.; Memmi M.; Vardas P.; Napolitano C.; Priori S.G.; Kass R.S.;
J. Biol. Chem. 276:30623-30630(2001)
Cited for: CHARACTERIZATION OF VARIANT LQT3 CYS-1795; CHARACTERIZATION OF VARIANT BRGDA1 HIS-1795;
Natural history of Brugada syndrome: insights for risk stratification and management.
Priori S.G.; Napolitano C.; Gasparini M.; Pappone C.; Della Bella P.; Giordano U.; Bloise R.; Giustetto C.; De Nardis R.; Grillo M.; Ronchetti E.; Faggiano G.; Nastoli J.;
Cited for: VARIANTS BRGDA1 HIS-27; VAL-226; VAL-230; HIS-282; MET-294; SER-319; PHE-393 DEL; GLN-567; PRO-681; GLU-735; LEU-851; ILE-892; SER-896; LEU-910; CYS-965; LYS-1053; ASN-1236; GLN-1240; SER-1293; LYS-1500 DEL; ARG-1740; LYS-1784; HIS-1795 AND LEU-1951;
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