The Nbea mutants created included E2090K in the DUF domain (a missense mutation causing a milder form of Chediak-Higashi Syndrome in adults [23]), E2218R in the PH domain and N2302A in the BEACH domain (equivalent mutations in FAN: E256R and N328A, respectively; disrupt the interactions between the PH and BEACH domain [5]), V2346Q, E2447R and P2499S in the BEACH domain and V2773I in the WD40 repeats (corresponds to a missense mutation within the murine LYST gene that causes severe progressive Purkinje cell degeneration [24]; Figure S6). Here, NBEA is linked to Chediak-Higashi syndrome.