S.NO | Uniprot ID | Protein Name | Sequence Length | SANT Region | Mutation | Involvement of Repeats in Mutations |
1 | O60264 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 | 1052 | 211 211 K->R: Loss of ATP hydrolysis and no association of the SMARCA5/cohesin/NuRD complex with chromatin | N | |
2 | P28370 | Probable global transcription activator SNF2L1 | 1054 | 214 214 K->R: No effect on neurite outgrowth | N | |
3 | Q9Y618 | Nuclear receptor corepressor 2 | 2525 | 242 245
242 245 HRIL->AEIA: Abolishes interaction with TBL1X 2128 2128 R->A: Abolishes interaction with the apo LBD of RARA 2130 2130 V->P: Abolishes interaction with the apo LBD of RARA 2131 2131 T->G: Abolishes interaction with the apo LBD of RARA | N | |
4 | Q99543 | DnaJ homolog subfamily C member 2 | 621 | 512 513
512 513 HQ->AA: Loss of function | N |