FIGURE
Fig. 1
- ID
- ZDB-FIG-250806-14
- Publication
- Ampuja et al., 2025 - The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
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Fig. 1
ERBB2 c.1795C>T variant and pedigrees of the affected families (A) Pedigrees of the three affected families. Arrows indicate the probands in each family. (B) The p.Arg599Cys variant is located in the extracellular GFR domain IV of ERBB2. (C) ERBB2 protein sequence conservation around the variant site. (D) Protein sequence alignment of the four members of the EGFR family and the ERBB2 p.Arg599Cys mutant showing conservation of the cysteine sites in the four WT receptors, and addition of an extra cysteine in the ERBB2 p.Arg599Cys mutant. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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