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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Fig. 4

The c.1253 T > C (p.I418T) mutation has no effect on ERBB3 expression and interaction with ERBB2, whereas the c.3182dupA (p.N1061Kfs*16) mutation produces a novel truncated protein. a Western blotting results using anti-Myc antibody to detect ERBB3 in lysates of HEK293T cells transfected with 2 μg empty vector (EV) or WT, c.1253 T > C (M1), or c.3182dupA (M2) plasmids. b Results of co-immunoprecipitation to detect the interaction between ERBB2 and WT or I418T (M1) mutant ERBB3

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172