Fig. 3.

NEMO mutations found in human diseases. a Truncating mutations. Non-sense mutations generating IP or EDA-ID are indicated by dumbbell-shaped black or dotted bars, respectively. Frameshift mutations generating IP or EDA-ID are indicated by black or dumbbell-shaped bars, respectively. An EDA-ID-linked N-terminal deletion resulting from a translational reinitiation is indicated by a gray dumbbell-shaped bar. b Missense mutations and short deletions. IP-associated mutations are indicated by black arrows, EDA-ID-associated ones by dotted arrows, OL-EDA-ID-associated ones by blue arrows and ID-associated ones by gray arrows. The defined or putative molecular dysfunctions are also indicated. Mutations are compiled from [18, 21]