Variant position: 383 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 557 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 NGNGFYSHQSLHAWYRDTDV EYLEIVRTPQTLRTPHLILSS
Chimpanzee NGNGFYSHQSLHAWYRDTDV EYLEIVRTPQTLRTPHLILSS
Mouse NGNGFYSHQSLHAWYRDTDV EYLEIARPPLALRTPHLILSS
Rat NGNGFYSHQSLHAWYRDTDV EYLEIARPPLTLRTPHLILSS
Bovine NGNGFYSHQSLHAWYRDTDV EYLEIARTPQTLRTPHLILSS
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
35 – 557 Leucine-rich glioma-inactivated protein 1
366 – 415 EAR 4
292 – 557 Missing. In isoform 2.
379 – 387
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface.
Sirerol-Piquer M.S.; Ayerdi-Izquierdo A.; Morante-Redolat J.M.; Herranz-Perez V.; Favell K.; Barker P.A.; Perez-Tur J.;
Hum. Mol. Genet. 15:3436-3445(2006)
Cited for: SUBCELLULAR LOCATION; GLYCOSYLATION; MUTAGENESIS OF ASN-192; ASN-277 AND ASN-422; CHARACTERIZATION OF VARIANTS ETL1 ARG-46; ARG-145; ARG-200; CYS-318 AND ALA-383;
Two novel epilepsy-linked mutations leading to a loss of function of LGI1.
Chabrol E.; Popescu C.; Gourfinkel-An I.; Trouillard O.; Depienne C.; Senechal K.; Baulac M.; LeGuern E.; Baulac S.;
Arch. Neurol. 64:217-222(2007)
Cited for: SUBCELLULAR LOCATION; VARIANT ETL1 PRO-232; CHARACTERIZATION OF VARIANTS ETL1 PRO-232 AND ALA-383;
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.
Kalachikov S.; Evgrafov O.; Ross B.; Winawer M.; Barker-Cummings C.; Boneschi F.M.; Choi C.; Morozov P.; Das K.; Teplitskaya E.; Yu A.; Cayanis E.; Penchaszadeh G.; Kottmann A.H.; Pedley T.A.; Hauser W.A.; Ottman R.; Gilliam T.C.;
Nat. Genet. 30:335-341(2002)
Cited for: VARIANT ETL1 ALA-383;
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