Properties of GNE mutations identified in the British cohort
| Mutation (NM_001128227.2) | Old nomenclature (NM 005476.3) | Geographical origin | Zygosity | Exon | Domain | Prediction (SIFT/Mutation Taster) |
|---|---|---|---|---|---|---|
| c.256G>A, p.Gly86Arg | Novel | 1 Southern England/ Pakistan | 1 CHz pt | 3 | Epimerase | Disease causing |
| c.331G>T, p.Asp111Tyr | Novel | 1 ROI | 1 CHz pt | 4 | Epimerase | Disease causing |
| c.479G>A, p.Arg160Gln | c.386G>A, p.Arg129Gln | 1 Southern England | 1 CHz pt | 4 | Epimerase | Disease causing |
| c.691A>T, p.Ile231Phe | c.649A>T, p.Ile200Phe | 1 Scotland, 1 Northern Ireland | 2 CHz pts | 4 | Epimerase | Disease causing |
| c.740T>C, p.Val247Ala | c.647T>C, p.Val216Ala | 1 Scotland | 1 CHz pt | 5 | Epimerase | Disease causing |
| c.805del G, Asp269Metfs*11 | Novel | 1 Northern Ireland | 1 CHz pt | 5 | Epimerase | Frameshift /disease causing |
| c.830G>A, p.Arg277Gln | c.737G>A, p.Arg246Gln | 2 Southern England | 2 CHz pts (sib pair) | 5 | Epimerase | Inconclusive |
| c.841C>A, p.Leu281Met | Novel | 1 Scotland | 1 CHz pt | 5 | Epimerase | Disease causing |
| c.922C>T, Arg308Cys | c.829C>T, p.Arg277Cys | 1 Southern England | 1 CHz pt | 6 | Epimerase | Disease causing |
| c.1085 T>G, p.Val362Gly | Novel | 1 Scotland | 1 CHz pt | 7 | Epimerase | Disease causing |
| c.1178G>A, p.Gly393Glu | Novel | 2 Southern England | 2 CHz pts (1sib pair) | 8 | Kinase | Disease causing |
| c.1225G>T, p.Asp409Tyr | c.1132G>T, p.Asp378Tyr | 3 Northern England, 5 Northern Ireland, 4 Scotland | 12 CHz pts (2 sib pairs) | 8 | Kinase | Disease causing |
| c.1313dupT, p.Ser439Lysfs*6 | Novel | 1 Northern Ireland/ India | 1 CHz pt | 8 | Kinase | Frameshift /disease causing |
| c.1853T>C, p.Ile618Thr | Novel | 1 ROI | 1 CHz pt | 11 | Kinase | Disease causing |
| c.1985C>T, p.Ala662Val | c.1892C>T, p.Ala631Val | 2 Northern England, 6 Northern Ireland, 8 Scotland | 5 Homoz pts, 11 CHz pts (2 sib pairs) | 12 | Kinase | Disease causing |
| c.2179G>A, p.Val727Met | c.2187G>A, p.Val696Met | 2 Asia, 1 Northern England | 3 CHz pts | 13 | Kinase | Disease 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.