Table 2.
Summary of heterozygous EFTUD2 mutations in this report
| |
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 |
*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.