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Table 1 UPF3B mutations linked to neurodevelopmental disorders

From: Full UPF3B function is critical for neuronal differentiation of neural stem cells

  Mutation Open Reading Frame Phenotype UPF3B protein
Family 1 [2] 674_677delGAAA 1 Arg225fs*20 1 FG syndrome (MIM 305450), subjects with autistic features  
Family 2 [2] 867_868delAG 1 Gly290fs*2 1 Lujan-Fryns syndrome (MIM 309520)  
Family 3 [2] 1288C > T 1 Arg430* 1 Lujan-Fryns syndrome, subjects with autistic features  
Family 4 [2] 478 T > G 1 Tyr160Asp 1 non-syndromic XLID, subjects with autistic features UPF3B-Asp160
Family T13 [3] 1081C > T 2 Arg361* 2 non-syndromic XLID  
Family S98 [3] 1103G > A 1 Arg368Gln 1 Lujan-Fryns syndrome,
also diagnosed as borderline ID with autism
UPF3B-Gln355 2
Family N37 [3] 1136G > A 1 Arg379His 1 non-syndromic XLID UPF3B-His366 2
1 Family [1] 683_686delAAGA Gln228fs*18 Childhood onset schizophrenia, ASD, ADHD  
1 Family [4] c697_698delAG Arg233fs*30 Developmental delay, ASD  
1 patient [5] 764G > A 1 Arg255Lys 1 schizophrenia UPF3B-Lys255
1 Family [6] 1288C > T 1 Arg430* 1 non-syndromic XLID  
  1. 1Location of mutation based on UPF3B transcript variant 1/isoform 1 (GenBank:NM_080632; GenBank:NP_542199). 2Location of mutation based on UPF3B transcript variant 2/isoform 2 (GenBank:NM_023010; GenBank:NP_075386). Note that transcript variant 1 starts to deviate from transcript variant 2 at nucleotide 808, and isoform 1 from isoform 2 at amino acid 269. This difference is due to skipping of an exon (808–846) in the NM_080632 open reading frame
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