| S.NO | Uniprot ID | Protein Name | Sequence Length | UIM Region | Mutation | Involvement of Repeats in Mutations |
| 1 | P54252 | Ataxin-3 | 361 | 14 14 C->A: Loss of deubiquitination activity 236 236 S->A: Inhibits substrate trapping 256 256 S->A: Inhibits substrate trapping 335 335 S->A: No effect on ubiquitination | Y | |
| 2 | Q9Y6I3 | Epsin-1 | 576 | 382 382 S->A: Abolishes phosphorylation by CDK1 382 382 S->D: Abolishes phosphorylation by CDK1 and reduces REPS2 binding 404 404 F->A: Reduces interaction with AP2B1 | N | |
| 3 | Q9UHP3 | Ubiquitin carboxyl-terminal hydrolase 25 | 1055 | 91 91 V->A: No interaction with SUMO3 when associated with A-92 92 92 I->A: No interaction with SUMO3 when associated with A-91 99 99 K->R: Abolishes sumoylation 178 178 C->S: Abrogates deubiquitinating activity 740 740 Y->F: No effect on interaction with SYK 878 878 T->I: No effect on interaction with SYK 880 880 Y->F: No effect on interaction with SYK 883 883 I->S: No effect on interaction with SYK | Y | |
| 4 | P42566 | Epidermal growth factor receptor substrate 15 | 896 | 154 154 V->E: Loss of interaction with STON2 NPF motifs 169 169 W->A: Loss of interaction with STON2 NPF motifs | N | |
| 5 | P25686 | DnaJ homolog subfamily B member 2 | 324 | 31 33
31 33 HPD->QPN: Loss of interaction with HSP70 and loss of the ability to promote ATXN3 proteasomal degradation 31 31 H->Q: Probable loss of interaction with HSP70 and loss of the ability to reduce PRKN aggregation 219 219 S->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-222 A-262 and A-265 222 222 E->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-219 A-262 and A-265 262 262 S->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-219 A-222 and A-265 265 265 E->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-219 A-222 and A-262 321 321 C->S: Loss of localization to the endoplasmic reticulum and relocalization to cytoplasm and nucleus 324 324 L->M: No effect on localization to the endoplasmic reticulum membrane | Y | |
| 6 | Q86T82 | Ubiquitin carboxyl-terminal hydrolase 37 | 979 | 32 34
32 34 KEN->AAA: No effect 71 74 71 74 RLML->ALMA: No effect 96 99 96 99 RLFL->ALFA: No effect 160 163 160 163 RKVL->AKVA: No effect 221 223 221 223 KEN->AAA: No effect 350 350 C->S: Abolishes deubiquitinase activity 628 628 S->A: Abolishes phosphorylation by CDK2, leading to lower deubiquitinase activity 782 784 782 784 KEN->AAA: Impaired interaction with FZR1/CDH1 and subsequent ubiquitination | N | |
| 7 | Q8IZ07 | Ankyrin repeat domain-containing protein 13A | 590 | 491 495
491 495 AIQQS->GIQQA: No effect on 'Lys-63'-linked ubiquitin binding and interaction with EGFR when associated with 527-G--A-531 when associated with 527-G--A-531 and 557-G--A-561 when associated with 527-G--A-531, 557-G--A-561 and 582-G--A-586 527 531 527 531 AIQES->GIQEA: No effect on 'Lys-63'-linked ubiquitin binding and interaction with EGFR when associated with 491-G--A-495 when associated with 557-G--A-561 when associated with 491-G--A-495 and 557-G--A-561 when associated with 557-G--A-561 and 582-G--A-586 when associated with 491-G--A-495, 557-G--A-561 and 582-G--A-586 557 561 557 561 AMELS->GMELA: Slightly inhibits 'Lys-63'-linked ubiquitin binding and strongly inhibits interaction with EGFR when associated with 527-G--A-531 when associated with 491-G--A-495 and 527-G--A-531 when associated with 582-V--S-586 when associated with 491-G--A-495, 527-G--A-531 and 582-G--A-586 582 586 582 586 VLQLS->GLQLA: Abolishes 'Lys-63'-linked ubiquitin binding and strongly inhibits interaction with EGFR when associated with 557-G--A-561 when associated with 527-G--A-531 and 557-G--A-561 when associated with 491-G--A-495, 527-G--A-531 and 557-G--A-561 | Y | |
| 8 | Q96RL1 | BRCA1-A complex subunit RAP80 | 719 | 9 9 K->A: Does not affect symoylation when associated with A-19 A-31 A-52 and A-61 19 19 K->A: Does not affect symoylation when associated with A-9 A-31 A-52 and A-61 31 31 K->A: Does not affect symoylation when associated with A-9 A-19 A-52 and A-61 52 52 K->A: Does not affect symoylation when associated with A-9 A-19 A-31 and A-61 61 61 K->A: Does not affect symoylation when associated with A-9 A-19 A-31 and A-52 81 81 Missing: Strongly reduces ubiquitin binding via UIM 1 88 88 A->G,S: Impairs localization to DNA damages sites when associated with A-92 S-113 and A-117 92 92 S->A: Impairs localization to DNA damages sites when associated with S-88 S-113 and A-117 97 103 97 103 REVNSQE->AA: Impairs the selectivity for 'K-63'-linked ubiquitin 97 103 97 103 REVNSQE->AAAAAAA: Increases the selectivity for 'K-63'-linked ubiquitin 97 103 97 103 REVNSQE->AAAAAAAAA: Impairs the selectivity for 'K-63'-linked ubiquitin 101 101 S->A,E: Slightly impairs the selectivity for 'K-63'-linked ubiquitin 113 113 A->G,S: Impairs ubiquitin-binding and localization to DNA damages sites when associated with S-88 A-92 and A-117 117 117 S->A: Impairs ubiquitin-binding and localization to DNA damages sites when associated with S-88 A-92 and S-113 205 205 S->G: Abolishes phosphorylation at this position 508 508 C->A: Abolishes interaction with histone monoubiquitinated H2B without affecting the interaction with H2A | Y |