Table 1. Comparison of the dynamin 2 disease-causing mutations tested.
Disease | CMT | CNM | ||||
Mutations | G358R | K562E | R465W | R522H | S619L | P627H |
Affected domain | Middle | PH | Middle | PH | PH | PH |
Localization to MT's1 | + | + | - | - | - | - |
MT dynamics2 | MT stability not affected | MT stability not affected | ||||
CME and clathrin-positive structures1 | normal and clustered | strongly decreased and clustered | decreased and enlarged | decreased and enlarged | decreased and enlarged | decreased and enlarged |
CME in patient cells2 | normal | normal | ||||
Golgi maintenance1,2 | normal | normal | normal | normal | normal | normal |
Centrosome cohesion1,2 | normal | normal | normal | normal | normal | normal |
ectopic expression, 2in patient fibroblasts.