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The 4 SANT Repeats and their Mutations

S.NOUniprot IDProtein Name Sequence LengthSANT RegionMutationInvolvement of Repeats in Mutations
1 O60264 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 1052211 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 1054214 214 K->R: No effect on neurite outgrowth
N
3 Q9Y618 Nuclear receptor corepressor 2 2525242 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 621512 513 512 513 HQ->AA: Loss of function
N