HICF2: DOCK11 S560V
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DOCK11, also known as Zizimin2, is a multidomain protein, the mutation is in not crystallised and hard to modellable region (Phyre, iTasser and EVFold were tried). It could be disordered, but some models suggest it forms a globular mini-domain (520-590).
This mutation (S560V) is a phosphorylated surface serine (Phosphosite). According to ELM, it is the work of CK1. Therefore, the mutation is affecting the interaction with another protein. Several proteins are known to bind Dock11, but no XL-MS data gives a hit to the residue (XL-MS data is always limited).
Dock11 is X-linked and the patient is male.
Structure
The structure of Dock11 is interesting. Four domains are known and crystallised. The mutation is between the second and third domains and the region may for between 1-4 separate domains (convariance suggests it). Surprisingly, the region between the third and fourth is very structured and solves nicely.