Variant position: 46 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 LSALLLTEGKKPAKPKCPAV CTCTKDNALCENARSIPRTVP
Chimpanzee LSALLLTEGKKPAKPKCPAV CTCTKDNALCENARSIPRTVP
Mouse FSVVLLTEGKKPAKPKCPAV CTCSKDNALCENARSIPRTVP
Rat FSVVLLTEGKKPAKPKCPAV CTCSKDNALCENARSIPRTVP
Bovine LSALLLTEGKKPAKPKCPAV CTCTKDNALCENARSIPRTVP
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
35 – 72 LRRNT
46 – 48
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;
LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.
Gu W.; Brodtkorb E.; Steinlein O.K.;
Ann. Neurol. 52:364-367(2002)
Cited for: VARIANT ETL1 ARG-46;
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