Variant position: 42 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 FLCLLSALLLTEGKKPAKPK CPAVCTCTKDNALCENARSIP
Chimpanzee FLCLLSALLLTEGKKPAKPK CPAVCTCTKDNALCENARSIP
Mouse FLCLFSVVLLTEGKKPAKPK CPAVCTCSKDNALCENARSIP
Rat FLCLFSVVLLTEGKKPAKPK CPAVCTCSKDNALCENARSIP
Bovine CLCLLSALLLTEGKKPAKPK CPAVCTCTKDNALCENARSIP
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
LGI1 mutations in temporal lobe epilepsies.
Berkovic S.F.; Izzillo P.; McMahon J.M.; Harkin L.A.; McIntosh A.M.; Phillips H.A.; Briellmann R.S.; Wallace R.H.; Mazarib A.; Neufeld M.Y.; Korczyn A.D.; Scheffer I.E.; Mulley J.C.;
Cited for: VARIANTS ETL1 GLY-42 AND LEU-473;
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