Variant position: 82 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 LPFIYGDIPPEMVSVPLEDL DPYYINKKTFIVLNKGKAISR
Mouse LPFIYGDIPPEMVSEPLEDL DPYYINKKTFIVLNKGKAISR
Rat LPFIYGDIPPEMVSEPLEDL DPYYINKKTFIVLNKGKAISR
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
1 – 129 Cytoplasmic
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.
Ben-Shalom R.; Keeshen C.M.; Berrios K.N.; An J.Y.; Sanders S.J.; Bender K.J.;
Biol. Psychiatry 82:224-232(2017)
Cited for: VARIANTS ASN-12; GLY-82; HIS-379; CYS-937; HIS-937; 959-CYS--LYS-2005 DEL; 1013-GLY--LYS-2005 DEL; ARG-1386 AND MET-1420; CHARACTERIZATION OF VARIANTS ASN-12; GLY-82; HIS-379; CYS-937; HIS-937; 959-CYS--LYS-2005 DEL; 1013-GLY--LYS-2005 DEL; ARG-1386 AND MET-1420; INVOLVEMENT IN AUTISM SPECTRUM DISORDER; FUNCTION;
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