Variant position: 649 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 SRASRVLPILPMNGKMHSAV DCNGVVSLVGGPSTLTS-AGQL
Rat SRASRGIPTLPMNGKMHSAV DCNGVVSLVGGPSALTSPVGQ
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 – 2005 Sodium channel protein type 2 subunit alpha
423 – 759 Cytoplasmic
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang J.W.; Shi X.Y.; Kurahashi H.; Hwang S.K.; Ishii A.; Higurashi N.; Kaneko S.; Hirose S.;
Epilepsy Res. 102:195-200(2012)
Cited for: VARIANTS LYS-19; ASN-322; VAL-328 AND ASN-649; VARIANT EIEE11 THR-1312;
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