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. 2020 May 25;161(8):bqaa083. doi: 10.1210/endocr/bqaa083

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)
HHS Vulnerability Disclosure