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UniProtKB/Swiss-Prot Q07001: Variant p.Glu80Lys

Acetylcholine receptor subunit delta
Gene: CHRND
Variant information

Variant position:  80
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 Glutamate (E) to Lysine (K) at position 80 (E80K, p.Glu80Lys).
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 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:  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:  In CMS3B; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  80
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  517
The length of the canonical sequence.

Location on the sequence:   LSNLISLKEVEETLTTNVWI  E HGWTDNRLKWNAEEFGNISV
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:  
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 22 – 245 Extracellular
Glycosylation 97 – 97 N-linked (GlcNAc...) asparagine
Alternative sequence 67 – 81 Missing. In isoform 2.


Literature citations

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
Brownlow S.; Webster R.; Croxen R.; Brydson M.; Neville B.; Lin J.-P.; Vincent A.; Newsom-Davis J.; Beeson D.;
J. Clin. Invest. 108:125-130(2001)
Cited for: VARIANT CMS3B LYS-80; CHARACTERIZATION OF VARIANT CMS3B LYS-80;

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.