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UniProtKB/Swiss-Prot Q18PE1: Variant p.Ser45Leu

Protein Dok-7
Gene: DOK7
Variant information

Variant position:  45
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 Serine (S) to Leucine (L) at position 45 (S45L, p.Ser45Leu).
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 small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Does not affect AChR clusters number or complexity.
Any additional useful information about the variant.

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

Sequence information

Variant position:  45
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  504
The length of the canonical sequence.

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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.



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.

Chain 1 – 504 Protein Dok-7
Domain 4 – 109 PH
Alternative sequence 1 – 138 Missing. In isoform 2.
Mutagenesis 30 – 30 S -> W. Reduced stimulation of MUSK autophosphorylation.
Mutagenesis 32 – 32 V -> A. Reduced stimulation of MUSK autophosphorylation.

Literature citations

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A.; Petit F.; Alexandri N.; Gaudon K.; Bauche S.; Rouche A.; Gras D.; Fournier E.; Koenig J.; Stojkovic T.; Lacour A.; Petiot P.; Zagnoli F.; Viollet L.; Pellegrini N.; Orlikowski D.; Lazaro L.; Ferrer X.; Stoltenburg G.; Paturneau-Jouas M.; Hentati F.; Fardeau M.; Sternberg D.; Hantai D.; Richard P.; Eymard B.;
J. Neurol. 257:754-766(2010)
Cited for: VARIANTS CMS10 MET-116; LEU-146; ARG-157; ARG-171; ARG-172 AND VAL-180; VARIANT LEU-45;

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.