Variant position: 123 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 FDVISDDAFIGLPHLEYLFI ENNNIKSISRHTFRGLKSLIH
Chimpanzee FDVISDDAFIGLPHLEYLFI ENNNIKSISRHTFRGLKSLIH
Mouse FDVISDDAFIGLPHLEYLFI ENNNIKSISRHTFRGLKSLIH
Rat FDVISDDAFIGLPHLEYLFI ENNNIKSISRHTFRGLKSLIH
Bovine FDVISDDAFIGLPHLEYLFI ENNNIKSISRHTFRGLKSLIH
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
116 – 137 LRR 2
96 – 143 Missing. In isoform 3.
119 – 124
Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings.
Bonaventura C.D.; Carni M.; Diani E.; Fattouch J.; Vaudano E.A.; Egeo G.; Pantano P.; Maraviglia B.; Bozzao L.; Manfredi M.; Prencipe M.; Giallonardo T.A.; Nobile C.;
Cited for: VARIANT ETL1 LYS-123;
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