Variant position: 1857 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2009 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 PPLNLPQPNKLQLIAMDLPM VSGDRIHCLDILFAFTKRVLG
Mouse PPLNLPQPNKLQLIAMDLPM VSGDRIHCLDILFAFTKRVLG
Rat PPLNLPQPNKLQLIAMDLPM VSGDRIHCLDILFAFTKRVLG
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 – 2009 Sodium channel protein type 1 subunit alpha
1786 – 2009 Cytoplasmic
A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
Nagao Y.; Mazaki-Miyazaki E.; Okamura N.; Takagi M.; Igarashi T.; Yamakawa K.;
Epilepsy Res. 63:151-156(2005)
Cited for: VARIANT GEFS+2 LEU-1857;
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