UniProtKB/Swiss-Prot Q07001: Variant p.Val114Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Valine (V) to Leucine (L) at position 114 (V114L, p.Val114Leu). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. 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: Has no appreciable kinetic effects; allows for robust AChR expression. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs760395222 [ dbSNP | Ensembl ]

Sequence information

Variant position: 114 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: EFGNISVLRLPPDMVWLPEI V LENNNDGSFQISYSCNVLVY 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.

Type	Positions	Description
Chain	22 – 517	Acetylcholine receptor subunit delta
Topological domain	22 – 245	Extracellular
Glycosylation	97 – 97	N-linked (GlcNAc...) asparagine

Literature citations

Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.
Shen X.M.; Fukuda T.; Ohno K.; Sine S.M.; Engel A.G.;
J. Clin. Invest. 118:1867-1876(2008)
Cited for: INVOLVEMENT IN CMS3C; VARIANTS CMS3B PRO-42 AND LYS-79; VARIANT LEU-114; CHARACTERIZATION OF VARIANTS CMS3B PRO-42 AND LYS-79; CHARACTERIZATION OF VARIANT LEU-114;