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Table 2 Annotation of the two UBA5 mutations detected in the sisters

From: Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

  mutation A (maternal) mutation B (paternal)
Position (GRCh38) chr3:132,675,903 chr3:132,671,881
Variant consequence Missense Splice region (donor site) leading to a LoF
Variant genotype Heterozygous Heterozygous
cDNA changea c.1111G > A (NM_024818.3) c.684G > A (NM_024818.3)
Protein changea p.Ala371Thr (NP_079094.1) p.(Ala228=) (NP_079094.1)
Transcript length 404 AA (NM_024818.3) 404 AA (NM_024818.3)
Exon/exons in transcript 11/12 (NM_024818.3) 7/12 (NM_024818.3)
Allelic frequency Iceland 0.38% (249/30,067 Icelanders) Absent from 30,064 Icelanders
Allelic frequency abroad (gnomAD [7]) 0.58% (75/12,985 Finnish individuals)
0.25% (157/62,175 European,
non-Finnish individuals)b
Seen in one individual (European, non-Finnish) out of 138,632
SIFTc Deleterious NA
PolyPhen-2c Possibly damaging NA
GERP conservation scored Highly conserved (5.44) Highly conserved (4.95)
Disease in literature Early Infantile Epileptic Encephalopathy-44 [2,3,4]
  1. aFunctional annotation as suggested by the Human Genome Variation Society (HGVS)
  2. bA lower frequency in other populations
  3. cSIFT and PolyPhen-2 are scores for the predicted effect of amino acid substitution on protein structure and function
  4. dThe Genomic Evolutionary Rate Profiling (GERP) framework gives a measure of evolutionary conservation based on the alignment of sequences from 29 mammalian species