Variant position: 1719 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1980 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 FQITTSAGWDGLLLPILNRP PDCSLDKEHPGSGFKGDCGNP
Mouse FQITTSAGWDGLLLPILNRP PDCSLDKEHPGSGFKGDCGNP
Rat FQITTSAGWDGLLLPILNRP PDCSLDKEHPGSGFKGDCGNP
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 – 1980 Sodium channel protein type 8 subunit alpha
1714 – 1742 Extracellular
1504 – 1801 IV
1284 – 1980 Missing. In isoform 4.
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
Wagnon J.L.; Mencacci N.E.; Barker B.S.; Wengert E.R.; Bhatia K.P.; Balint B.; Carecchio M.; Wood N.W.; Patel M.K.; Meisler M.H.;
Hum. Mutat. 39:965-969(2018)
Cited for: FUNCTION; INVOLVEMENT IN MYOCL2; VARIANT MYOCL2 ARG-1719; CHARACTERIZATION OF VARIANT MYOCL2 ARG-1719;
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