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Predicted pathogenic BRCA1 amino acid substitutions are confined to the evolutionarily conserved N- and C-terminal domains. Predicted pathogenic BRCA1.

Published byJulius Dixon Modified over 5 years ago

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Presentation on theme: "Predicted pathogenic BRCA1 amino acid substitutions are confined to the evolutionarily conserved N- and C-terminal domains. Predicted pathogenic BRCA1."— Presentation transcript:

1 Predicted pathogenic BRCA1 amino acid substitutions are confined to the evolutionarily conserved N- and C-terminal domains. Predicted pathogenic BRCA1 amino acid substitutions are confined to the evolutionarily conserved N- and C-terminal domains. Schematic representation of the BRCA1 protein with the positions of variants classified as neutral (green) or deleterious (red) indicated. Positive and negative controls are depicted by open pinheads and the known deleterious truncation mutations 185delAG (N-terminal) and 5382insC (C-terminal) are marked in blue. The amino acid sequences of the evolutionarily conserved RING (N-terminal) and BRCT (C-terminal) domains are specified to show the exact positions of deleterious (red) and neutral (green) variants. The amino acid substitutions or nonsense (X) mutations of positive and negative controls are encircled. Peter Bouwman et al. Cancer Discovery 2013;3: ©2013 by American Association for Cancer Research

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