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UniProtKB/Swiss-Prot P43681: Variant p.Ser280Leu

Neuronal acetylcholine receptor subunit alpha-4
Gene: CHRNA4
Variant information

Variant position:  280
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Leucine (L) at position 280 (S280L, p.Ser280Leu).
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:  Change from small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In ENFL1.
Any additional useful information about the variant.

Sequence information

Variant position:  280
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  627
The length of the canonical 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.






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.

Chain 29 – 627 Neuronal acetylcholine receptor subunit alpha-4
Transmembrane 275 – 293 Helical
Lipidation 271 – 271 S-palmitoyl cysteine
Helix 274 – 292

Literature citations

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
Hirose S.; Iwata H.; Akiyoshi H.; Kobayashi K.; Ito M.; Wada K.; Kaneko S.; Mitsudome A.;
Neurology 53:1749-1753(1999)
Cited for: VARIANT ENFL1 LEU-280;

A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
Cho Y.-W.; Motamedi G.K.; Laufenberg I.; Sohn S.-I.; Lim J.-G.; Lee H.; Yi S.-D.; Lee J.-H.; Kim D.-K.; Reba R.; Gaillard W.D.; Theodore W.H.; Lesser R.P.; Steinlein O.K.;
Arch. Neurol. 60:1625-1632(2003)
Cited for: VARIANT ENFL1 LEU-280;

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.