Variant position: 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 504 The length of the canonical sequence.
Location on the 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.
Human YGAVPSGFIFEGGTRCGYWA GVFFLSSAEGEQISFLFDCIV
Mouse YGAVPNGFIFEGGTRCGYWA GVFFLSSAEGEQMSFLFDCIV
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
1 – 504 Protein Dok-7
105 – 210 IRS-type PTB
175 – 255 CGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPG -> GWRLLPVLGRGGADQLPVRLHRPRHLPHQGPLWAAAGSTRPKSPGTLDCGGACGPGSPGNPTAGEAAEPPLTCGQAGQWRG. In isoform 4.
174 – 174 R -> A. Reduced stimulation of MUSK autophosphorylation; when associated with Q-158.
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;
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.