Table 2.
NCOA and NCOR Complex Genetic Variants in Humans
Gene | Changes of Nucleotides or Amino Acid Sequence | Inherited or de novo | Phenotypes | Ref. |
---|---|---|---|---|
NCOA1 | V136M, M381R, R385Q, N391S, Q463H, S557T, Q597P, S603C, A715T, S730R, S738L, T979P, M984T, P988S, P1034L, I1127T, N1212K, S1250I, L1376P | Inherited or unknown | Severe, early-onset obesity | (42) |
NCOR1 | c.2182 + 2T>G (splice donor site), c.2182 + 1G > T (splice donor site), P1025L, c.3449-1G>C (splice acceptor site) | de novo | Autism spectrum disorder, intelligence disability | (70, 78, 79) |
NCOR2 | R2296Q, S647L, E1328G and V467I | de novo | Autism spectrum disorder, intelligence disability | (70, 80, 81) |
HDAC3 | L266S | de novo | Learning difficulty | (70) |
TBL1XR1 | 3q26.31q26.32 (175 507 453–177 095 072) del, 3q26.32 (176 025 379-177 377 006) del, 3q26.32 (176 221 801−176 929 584) del, G70D, Y446C, L282P, H441R, D370Y, D328G, P444R, H213Q, C325Y, Y446H, Y446S, I269YfsTer8, I397SfsX19 | de novo or unknown | Autism spectrum disorder, developmental delay, intellectual disability | (83, 85, 86, 87, 88, 89, 90, 93, 94) |
TBL1X | H453Y, Y458C, N365Y, A366T, W369R, and c.1312-1G>A (splice site), R339X | Inherited or de novo | Central hypothyroidism | (99, 100) |