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Table 1.

Selected bchs alleles

Allele numberMolecular lesionType of mutation and domains affectedBchs protein levelSuppression of adult eye
bchs104 Low Weak 
bchs105 Q3428-Stop Truncation: removes most of the FYVE domain Low Weak 
bchs8 T2656-I Missense mutation in the BEACH domain: affects the predicted PH-BEACH interface Approx. 50% of control Strong 
bchs10 W3406-Stop Truncation: removes the FYVE domain Very low Strong 
bchs12 Undetectable Strong 
bchs13 W2217-Stop Truncation: removes the PH, BEACH, WD40, FYVE domains Very low Strong 
bchs17 W2640-Stop Truncation: removes most of the BEACH, all of the PH, WD40 and FYVE domains Undetectable Strong 
bchs26 Undetectable over deficiency Strong 
bchs40 G1224-D Missense mutation in CRAB Very low Strong 
bchs43 Undetectable over deficiency Strong 
bchs52 Q410-Stop Early Stop, appears to have some read-through the Stop codon Very low Strong 
bchs58 I1830...Stop Truncation: removes the PH, BEACH, WD40, FYVE domains Undetectable Strong 
Allele numberMolecular lesionType of mutation and domains affectedBchs protein levelSuppression of adult eye
bchs104 Low Weak 
bchs105 Q3428-Stop Truncation: removes most of the FYVE domain Low Weak 
bchs8 T2656-I Missense mutation in the BEACH domain: affects the predicted PH-BEACH interface Approx. 50% of control Strong 
bchs10 W3406-Stop Truncation: removes the FYVE domain Very low Strong 
bchs12 Undetectable Strong 
bchs13 W2217-Stop Truncation: removes the PH, BEACH, WD40, FYVE domains Very low Strong 
bchs17 W2640-Stop Truncation: removes most of the BEACH, all of the PH, WD40 and FYVE domains Undetectable Strong 
bchs26 Undetectable over deficiency Strong 
bchs40 G1224-D Missense mutation in CRAB Very low Strong 
bchs43 Undetectable over deficiency Strong 
bchs52 Q410-Stop Early Stop, appears to have some read-through the Stop codon Very low Strong 
bchs58 I1830...Stop Truncation: removes the PH, BEACH, WD40, FYVE domains Undetectable Strong 
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