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The 3 Macro Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthMacro RegionMutationInvolvement of Repeats in Mutations
1 Q8IXQ6 Poly [ADP-ribose] polymerase 9 854147 147 G->E: Reduces the binding to poly(ADP-ribose) by 50 percent and prevents increase in DTX3L-mediated histone ubiquitination without affecting ubiquitin ADP ribosylation, interaction with DTX3L and STAT1 and DTX3L catalytic activity
when associated with E-346
346 346 G->E: Reduces the binding to poly(ADP-ribose) by 50 percent and prevents increase in DTX3L-mediated histone ubiquitination without affecting ubiquitin ADP ribosylation, interaction with DTX3L and STAT1 and DTX3L catalytic activity
when associated with E-147
719 722 719 722 Missing: Loss of ADP ribosylation activity and interaction with DTX3L
737 737 Y->A: No defect in ubiquitin ADP ribosylation and the interaction with DTX3L
738 738 F->K: Severe reduction in ubiquitin ADP ribosylation
766 769 766 769 Missing: Loss of ADP ribosylation activity and interaction with DTX3L
780 784 780 784 Missing: Reduces ADP ribosylation activity and interaction with DTX3L
802 803 802 803 PE->AA: No defect in ADP ribosylation and interaction with DTX3L
831 854 831 854 Missing: No defect in ADP ribosylation and interaction with DTX3L
Y
2 Q460N3 Poly [ADP-ribose] polymerase 15 678559 559 H->Y: Abolishes catalytic activity
560 560 G->A: Slightly reduces catalytic activity
when associated with Y-559 and C-604
604 604 Y->C: Reduces catalytic activity 20-fold
when associated with Y-559 and A-560
N
3 Q460N5 Poly [ADP-ribose] polymerase 14 18011055 1055 G->E: Abolishes interaction with PARP10
Y