Variant position: 1559 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 ILICLNMVTMMVETDDQSQE MTNILYWINLVFIVLFTGECV
Rat ILICLNMVTMMVETDDQSQE MTNILYWINLVFIVLFTGECV
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
1551 – 1561 Extracellular
1513 – 1811 IV
Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.
Carroll L.S.; Woolf R.; Ibrahim Y.; Williams H.J.; Dwyer S.; Walters J.; Kirov G.; O'Donovan M.C.; Owen M.J.;
Psychiatr. Genet. 26:60-65(2016)
Cited for: VARIANTS LYS-19; 169-GLU--LYS-2005 DEL; PRO-850; ARG-908; PHE-1282; VAL-1559 AND ALA-1823;
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