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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95970: Variant p.Phe318Cys

Leucine-rich glioma-inactivated protein 1
Gene: LGI1
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Variant information Variant position: help 318 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 Phenylalanine (F) to Cysteine (C) at position 318 (F318C, p.Phe318Cys). 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 large size and aromatic (F) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; protein is retained in the endoplasmic reticulum; 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 318 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 IVAQLFGGSHIYKRDSFANK F IKIQDIEILKIRKPNDIETF 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                         IVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETF

Chimpanzee                    IVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETF

Mouse                         IVAQLFGGSHIYKRDGFANKFIKIQDIEVLKIRKPNDIETF

Rat                           IVAQLFGGSHIYKRDGFANKFIKIQDIEVLKIRKPNDIETF

Bovine                        IVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETF
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
Repeat 317 – 364 EAR 3
Alternative sequence 292 – 557 Missing. In isoform 2.
Beta strand 317 – 323



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; Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.
Fertig E.; Lincoln A.; Martinuzzi A.; Mattson R.H.; Hisama F.M.;
Neurology 60:1687-1690(2003)
Cited for: VARIANT ETL1 CYS-318;
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.