Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04844: Variant p.Arg167Leu

Acetylcholine receptor subunit epsilon
Gene: CHRNE
Feedback?
Variant information Variant position: help 167 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 Arginine (R) to Leucine (L) at position 167 (R167L, p.Arg167Leu). 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 basic (R) to medium size and hydrophobic (L) 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 CMS4C; significantly reduced AChR expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 493 The length of the canonical sequence.
Location on the sequence: help VCAVEVTYFPFDWQNCSLIF R SQTYNAEEVEFTFAVDNDGK 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                         VCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDND-GK

Mouse                         TCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFIFAVDDD-G

Rat                           TCAVEVTYFPFDWQNCSLIFRSQTYNAEEVELIFAVDDD-G

Bovine                        TCAVEVTYFPFDWQNCSLVFRSQTYNAEEVEFVFAVDDE-G

Xenopus laevis                TCNIEITYFPFDWQNCSLVFRSKTYSANEIDLQLVTDDETG
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 21 – 493 Acetylcholine receptor subunit epsilon
Topological domain 21 – 239 Extracellular
Glycosylation 161 – 161 N-linked (GlcNAc...) asparagine



Literature citations
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
Ohno K.; Quiram P.A.; Milone M.; Wang H.-L.; Harper M.C.; Pruitt J.N. II; Brengman J.M.; Pao L.; Fischbeck K.H.; Crawford T.O.; Sine S.M.; Engel A.G.;
Hum. Mol. Genet. 6:753-766(1997)
Cited for: VARIANTS CMS4C LEU-167; LEU-265 AND TRP-331; CHARACTERIZATION OF VARIANTS CMS4C LEU-167; LEU-265 AND TRP-331;
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.