Variant position: 132 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 LTPFNPIRKLAIKILVHSLF NMLIMCTILTNCVFMTMSNPP
Mouse LTPFNPIRKLAIKILVHSLF NVLIMCTILTNCVFMTMSNPP
Rat LTPFNPIRKLAIKILVHSLF NVLIMCTILTNCVFMTMSNPP
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.
Confirming an expanded spectrum of SCN2A mutations: a case series.
Matalon D.; Goldberg E.; Medne L.; Marsh E.D.;
Epileptic Disord. 16:13-18(2014)
Cited for: VARIANTS DEE11 LYS-132; GLY-430 AND PRO-1342;
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
Grinton B.E.; Heron S.E.; Pelekanos J.T.; Zuberi S.M.; Kivity S.; Afawi Z.; Williams T.C.; Casalaz D.M.; Yendle S.; Linder I.; Lev D.; Lerman-Sagie T.; Malone S.; Bassan H.; Goldberg-Stern H.; Stanley T.; Hayman M.; Calvert S.; Korczyn A.D.; Shevell M.; Scheffer I.E.; Mulley J.C.; Berkovic S.F.;
Cited for: VARIANTS BFIS3 LYS-1321 AND LYS-1531;
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