Fig. 4: Gene and protein structures of NBAS and identified mutations. | Human Genome Variation

Fig. 4: Gene and protein structures of NBAS and identified mutations.

From: Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure

Fig. 4

Schematic gene and protein structures of NBAS showing the p31 interaction site at the N-terminus and the ZW10 and RINT1 interaction site at the C-terminus. Mutations associated with acute liver failure (ALF), including those in our patient, were mapped to the N-terminal end, whereas mutations associated with SOPH syndrome or related diseases without the liver phenotype were mapped near the C-terminal end. Mutations identified in this study are boxed

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