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Table 2 Summary of heterozygous EFTUD2 mutations in this report

From: Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

  Family 1 Family 2 Patient 6 Patient 7 Patient 8
  Patients 1-3 Patients 4, 5    
Genomic position* chr17:42949813 chr17:42929870 chr17:42957947 chr17:42929931 chr17:42961093
Nucleotide substitution# c.994+1G>C c.2622dupT c.594T>G c.2562-1G>C c.351-1G>A
Localization Intron 11 Exon 26 Exon 8 Intron 25 Intron 4
Amino acid substitution Predicted change: p.Ile875Tyrfs*10 p.Tyr198* p.Arg854Argfs*29 Predicted change:
  skiping of exon 11    p.Arg854Argfs*76 Skipping. of exon 5
  p.Ser290Argfs*2    p.Ala823–Gln859del p.Asp117Glufs*8
  1. *Reference sequence for the genomic position is GRCh37/hg19 as of February 2009, and #reference sequence for the cDNA position is Ensemble: ENST00000426333/NCBI: NM_004247.3.