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.1111GÂ >Â A (NM_024818.3) | c.684GÂ >Â 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 |