Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q07001: Variant p.Glu402Lys

Acetylcholine receptor subunit delta
Gene: CHRND
Feedback?
Variant information Variant position: help 402 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 Glutamate (E) to Lysine (K) at position 402 (E402K, p.Glu402Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 CMS3C; results in reduced expression of the AChR at the cell surface; impairs normal clustering of the AChR channel with RAPSN. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 402 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 517 The length of the canonical sequence.
Location on the sequence: help GYISKAEEYFLLKSRSDLMF E KQSERHGLARRLTTARRPPA 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.
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 22 – 517 Acetylcholine receptor subunit delta
Topological domain 334 – 471 Cytoplasmic
Modified residue 390 – 390 Phosphotyrosine; by Tyr-kinases



Literature citations
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
Mueller J.S.; Baumeister S.K.; Schara U.; Cossins J.; Krause S.; von der Hagen M.; Huebner A.; Webster R.; Beeson D.; Lochmueller H.; Abicht A.;
Brain 129:2784-2793(2006)
Cited for: INVOLVEMENT IN CMS3C; VARIANT CMS3C LYS-402; CHARACTERIZATION OF VARIANT CMS3C LYS-402;
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.