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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