Variant position: 158 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 LVLARDIPPAVTGQWKLSDL RRYGAVPSGFIFEGGTRCGYW
Mouse LVLARDIPPTVMGQWKLSDL RRYGAVPNGFIFEGGTRCGYW
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
139 – 178 VLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYW -> MMSSSWPGTSPRLSRGSGSCLTSGATGPCQADSSLKAGPG. In isoform 2.
174 – 174 R -> A. Reduced stimulation of MUSK autophosphorylation; when associated with Q-158.
The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.
Bergamin E.; Hallock P.T.; Burden S.J.; Hubbard S.R.;
Mol. Cell 39:100-109(2010)
Cited for: INTERACTION WITH MUSK; FUNCTION; CHARACTERIZATION OF VARIANTS CMS10 VAL-33 AND GLN-158; MUTAGENESIS OF SER-30; VAL-32 AND ARG-174;
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;
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