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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q18PE1: Variant p.Gly180Ala

Protein Dok-7
Gene: DOK7
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Variant information Variant position: help 180 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 Glycine (G) to Alanine (A) at position 180 (G180A, p.Gly180Ala). 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 glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 CMS10; results in a significant reduction of AChR clusters. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 504 The length of the canonical sequence.
Location on the sequence: help YGAVPSGFIFEGGTRCGYWA G VFFLSSAEGEQISFLFDCIV 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                         YGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIV

Mouse                         YGAVPNGFIFEGGTRCGYWAGVFFLSSAEGEQMSFLFDCIV

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 1 – 504 Protein Dok-7
Domain 105 – 210 IRS-type PTB
Alternative sequence 175 – 255 CGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPG -> GWRLLPVLGRGGADQLPVRLHRPRHLPHQGPLWAAAGSTRPKSPGTLDCGGACGPGSPGNPTAGEAAEPPLTCGQAGQWRG. In isoform 4.
Mutagenesis 174 – 174 R -> A. Reduced stimulation of MUSK autophosphorylation; when associated in cis with Q-158.



Literature citations
Dok-7 mutations underlie a neuromuscular junction synaptopathy.
Beeson D.; Higuchi O.; Palace J.; Cossins J.; Spearman H.; Maxwell S.; Newsom-Davis J.; Burke G.; Fawcett P.; Motomura M.; Muller J.S.; Lochmuller H.; Slater C.; Vincent A.; Yamanashi Y.;
Science 313:1975-1978(2006)
Cited for: VARIANT CMS10 ALA-180; The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Cossins J.; Liu W.W.; Belaya K.; Maxwell S.; Oldridge M.; Lester T.; Robb S.; Beeson D.;
Hum. Mol. Genet. 21:3765-3775(2012)
Cited for: VARIANTS CMS10 LYS-3; THR-31; MET-77; CYS-109; LEU-139; GLN-158; ARG-161; ARG-166; ASP-171 AND ALA-180; VARIANTS LEU-45; VAL-99; ASN-197; HIS-261; GLN-272; ARG-296; CYS-323; LYS-382; GLN-402; SER-415; THR-440; TRP-451; ASP-461 AND THR-503; CHARACTERIZATION OF VARIANTS CMS10 LYS-3; THR-31; MET-77; CYS-109; LEU-139; GLN-158; ARG-161; ARG-166; ASP-171 AND ALA-180; CHARACTERIZATION OF VARIANT LEU-45;
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.