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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95970: Variant p.Cys46Arg

Leucine-rich glioma-inactivated protein 1
Gene: LGI1
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Variant information Variant position: help 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Arginine (R) at position 46 (C46R, p.Cys46Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In ETL1; loss of protein secretion; does not affect glycosylation status of the protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 557 The length of the canonical sequence.
Location on the sequence: help LSALLLTEGKKPAKPKCPAV C TCTKDNALCENARSIPRTVP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVP

Chimpanzee                    LSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVP

Mouse                         FSVVLLTEGKKPAKPKCPAVCTCSKDNALCENARSIPRTVP

Rat                           FSVVLLTEGKKPAKPKCPAVCTCSKDNALCENARSIPRTVP

Bovine                        LSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVP
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 35 – 557 Leucine-rich glioma-inactivated protein 1
Domain 35 – 72 LRRNT
Beta strand 46 – 48



Literature citations
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 (ISOFORMS 1 AND 2); 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 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
Nobile C.; Michelucci R.; Andreazza S.; Pasini E.; Tosatto S.C.; Striano P.;
Hum. Mutat. 30:530-536(2009)
Cited for: VARIANTS ETL1 ARG-42; GLY-42; ARG-46; ASP-110; LYS-122; LYS-123; TRP-136; ARG-145; PRO-154; ARG-200; PRO-232; THR-298; CYS-318; ALA-383; GLU-432 AND LEU-473; REVIEW; 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;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.