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. Author manuscript; available in PMC: 2015 May 1.
Published in final edited form as: Neuromuscul Disord. 2014 Mar 13;24(5):387–389. doi: 10.1016/j.nmd.2014.03.004

Table 1.

Most frequent GNE myopathy-associated GNE variants

New Nomenclature1 Previous Nomenclature
hGNE2 isoform mRNA transcript Exon hGNE1 isoform mRNA transcript Exon Ethnicity2
GenBank hGNE2
NP_001121699 		GenBank Variant 1
NM_001128227 		GenBank GNE gDNA
NC_000009 		GenBank hGNE1
NP_005467 		GenBank Variant 2
NM_005476
ENSEMBL GNE-003
ENSP 00000379839 		ENSEMBL GNE-003
ENST 00000396594		 ENSEMBL GNE gDNA
ENSG 00000159921 		ENSEMBL GNE-001
ENSP 00000367134 		ENSEMBL GNE-001
ENST 00000377902
p.C44S c.131G>C 3 p.C13S c.38G>C 2 Japanese
p.D207V c.620A>T 4 p.D176V c.527A>T 3 Japanese
p.V603L c.1807G>C 11 p.V572L c.1714G>C 10 Japanese
p.I618T c.1853T>C 11 p.I587T c.1760T>C 10 Cajun, Roma Gypsies
p.V727M c.2179G>A 13 p.V696M c.2086G>A 12 Indian
p.M743T c.2228T>C 13 p.M712T c.2135T>C 12 Middle Eastern
1

Nomenclature according to universally adapted gene/protein nomenclature rules.

2

Ethnicity in which the variant is mostly reported.