Table 1.

Summary of the characteristics of different FANCA mutants


Mutant

Interaction L*

Interaction B/L

Interaction G*

Localization

Possible defect
L210R   —   —   —   C   Interaction FANCG  
L274P   —   —   +   C   Conformation  
H492R   —   +   ±   C  Phosphorylation  
Y510C   —   +   ±   C   Phosphorylation  
R1055L
 
±
 

 
+
 
C + N
 
Interaction B/L
 

Mutant

Interaction L*

Interaction B/L

Interaction G*

Localization

Possible defect
L210R   —   —   —   C   Interaction FANCG  
L274P   —   —   +   C   Conformation  
H492R   —   +   ±   C  Phosphorylation  
Y510C   —   +   ±   C   Phosphorylation  
R1055L
 
±
 

 
+
 
C + N
 
Interaction B/L
 

—indicates no interaction; C, predominantly cytoplasmic; +, normal interaction; ±, weak interaction; and C + N cytoplasmic and nuclear.

*

Immunoprecipitation.

Mammalian 3-hybrid assay.

Described by Adachi et al.30 

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