TableĀ 3

Properties of GNE mutations identified in the British cohort

Mutation (NM_001128227.2)Old nomenclature (NM 005476.3)Geographical originZygosityExonDomainPrediction (SIFT/Mutation Taster)
c.256G>A, p.Gly86ArgNovel1 Southern England/ Pakistan1 CHz pt3EpimeraseDisease causing
c.331G>T, p.Asp111TyrNovel1 ROI1 CHz pt4EpimeraseDisease causing
c.479G>A, p.Arg160Glnc.386G>A, p.Arg129Gln1 Southern England1 CHz pt4EpimeraseDisease causing
c.691A>T, p.Ile231Phec.649A>T, p.Ile200Phe1 Scotland, 1 Northern Ireland2 CHz pts4EpimeraseDisease causing
c.740T>C, p.Val247Alac.647T>C, p.Val216Ala1 Scotland1 CHz pt5EpimeraseDisease causing
c.805del G, Asp269Metfs*11Novel1 Northern Ireland1 CHz pt5EpimeraseFrameshift /disease causing
c.830G>A, p.Arg277Glnc.737G>A, p.Arg246Gln2 Southern England2 CHz pts (sib pair)5EpimeraseInconclusive
c.841C>A, p.Leu281MetNovel1 Scotland1 CHz pt5EpimeraseDisease causing
c.922C>T, Arg308Cysc.829C>T, p.Arg277Cys1 Southern England1 CHz pt6EpimeraseDisease causing
c.1085 T>G, p.Val362GlyNovel1 Scotland1 CHz pt7EpimeraseDisease causing
c.1178G>A, p.Gly393GluNovel2 Southern England2 CHz pts (1sib pair)8KinaseDisease causing
c.1225G>T, p.Asp409Tyrc.1132G>T, p.Asp378Tyr3 Northern England, 5 Northern Ireland, 4 Scotland12 CHz pts (2 sib pairs)8KinaseDisease causing
c.1313dupT, p.Ser439Lysfs*6Novel1 Northern Ireland/ India1 CHz pt8KinaseFrameshift /disease causing
c.1853T>C, p.Ile618ThrNovel1 ROI1 CHz pt11KinaseDisease causing
c.1985C>T, p.Ala662Valc.1892C>T, p.Ala631Val2 Northern England, 6 Northern Ireland, 8 Scotland5 Homoz pts, 11 CHz pts (2 sib pairs)12KinaseDisease causing
c.2179G>A, p.Val727Metc.2187G>A, p.Val696Met2 Asia, 1 Northern England3 CHz pts13KinaseDisease causing
  • Previously reported mutations have been annotated using the old nomenclature (GenBank accession number NM 005476.3) and new nomenclature (NM_001128227.2). The old GNE sequence differs by 93 nucleotides from current sequence. The old sequence had exon 1 as non-coding and had an initiation codon (ATG) half way through the current exon 2. Variants named using the old sequence need to have 93 added on to the nucleotide position to find nomenclature according to current sequence.

  • CHz pt, compound heterozygous patient; Homoz pt, homozygous patient; ROI, Republic of Ireland.