Variant position: 1589 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2005 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 VFIVLFTGECVLKLISLRYY YFTIGWNIFDFVVVILSIVGM
Mouse VFIVLFTGECVLKLISLRHY YFTIGWNIFDFVVVILSIVGM
Rat VFIVLFTGECVLKLISLRHY YFTIGWNIFDFVVVILSIVGM
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.
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
Lauxmann S.; Boutry-Kryza N.; Rivier C.; Mueller S.; Hedrich U.B.; Maljevic S.; Szepetowski P.; Lerche H.; Lesca G.;
Cited for: VARIANT BFIS3 CYS-1589; CHARACTERIZATION OF VARIANT BFIS3 CYS-1589;
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