Table 1.
Frequently reported ethnic GNE variants associated with GNE myopathy
| Nucleotide substitution | Predicted amino acid substitution | |||
|---|---|---|---|---|
| Current nomenclature | Previous nomenclature | GNE prote in domain | Reported ethnicity | |
| c.131G>C | p.Cys44Ser | p.C13S | ep | Japanese, Korean, Chinese |
| c.620A>T | p.Asp207Val | p.D176V | ep | Japanese, Korean, Chinese |
| c.1225G>T | p.Asp409Tyr | p.D378Y | UF | Caucasian, Japanese |
| c.1616T>C | p.Leu539Ser | p.L508S | kin | Chinese |
| c.1807G>C | p.Val603Leu | p.V572L | kin | Japanese, Korean, Chinese |
| c.1853T>C | p.Ile618Thr | p.I587T | kin | Roma Bulgarian, Asian |
| c.1985C>T | p.Ala662Val | p.A631V | kin | Caucasian, Japanese, Korean |
| c.2179G>A | p.Val727Met | p.V696M | kin | Indian, Asian |
| c.2228T>C | p.Met743Thr | p.M712T | kin | Middle Eastern |
Nucleotide substitution are provided in the current nomenclature only (mRNA variant 1 NM_001128227.2). Predicted amino acid substitutions are provided in the current hGNE2 (NP_001121699.1) with the preferred 3-letter amino acid code and in the previously used hGNE1 (NP_005467.1) nomenclature [8], with 1-letter amino acid code for easy reference with previous reviews [31]. GNE protein domains: ep = UDP-GlcNAc 2-epimerase domain; UF = unknown function; kin = ManNAc kinase domain (Fig. 2). Ethnicities listed in order of prevalence, some variants are also sporadically reported in other ethnicities, which are not included in this table