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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172