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. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Hum Mutat. 2014 Aug;35(8):915–926. doi: 10.1002/humu.22583

Table 2.

Overview of reported GNE enzyme activities related to GNE protein variants

Allele 11 Allele 21 Domain2 Cell system GNE-ep3 GNE-kin3 References
hGNE1 hGNE2 hGNE1 hGNE2
GNE myopathy patient cells
G135V p.G166V R246W p.R277W ep-NES/ep fibroblasts 38 % 72% [Sparks et al., 2005]
V367I p.V398I V367I p.V398I ep/ep myoblasts 40 % ND [Salama et al., 2005]
D176V p.D207V D176V p.D207V ep/ep lymphoblasts <10% ND [Nishino et al., 2002]
D176V p.D207V V331A p.V362A ep/ep lymphoblasts <10% ND [Nishino et al., 2002]
R11W p.R42W F537I p.F568I ep/kin myoblasts 43 % ND [Salama et al., 2005]
D176V p.D207V I472T p.I503T ep/kin lymphoblasts <10% ND [Nishino et al., 2002]
D176V p.D207V V572L p.V603L ep/kin lymphoblasts <10% ND [Nishino et al., 2002]
D176V p.D207V A630T p.A661T ep/kin lymphoblasts <10% ND [Nishino et al., 2002]
V216A p.V247A A631V p.A662V ep/kin fibroblasts 48 % 63% [Sparks et al., 2005]
V572L p.V603L V572L p.V603L kin/kin lymphoblasts <10% ND [Nishino et al., 2002]
M712T p.M743T M712T p.M743T kin/kin fibroblasts 83 % 55% [Sparks et al., 2005]
M712T p.M743T M712T p.M743T kin/kin myoblasts 75 %4 ND [Salama et al., 2005]
M712T p.M743T M712T p.M743T kin/kin lymphoblasts 65 %5 ND [Hinderlich et al., 2004]
In vitro recombinant enzyme - cell expression systems
R11W p.R42W - - ep Sf9 cells 15 % 40 % [Penner et al., 2006]
C13S p.C44S - - ep COS cells 20% 100% [Noguchi et al., 2004]
H132Q p.H163Q - - ep-NES COS cells 5 % 50 % [Noguchi et al., 2004]
D176V p.D207V - - ep COS cells 18 % 87 % [Noguchi et al., 2004]
R177C p.R208C - - ep COS cells 10 % 78 % [Noguchi et al., 2004]
I200F p.I231F - - ep Sf9 cells 90 % 75 % [Penner et al., 2006]
C303V p.C334V - - ep-AR Sf9 cells 80 % 60 % [Penner et al., 2006]
C303* p.C334* - - ep-AR Sf9 cells 0 % 0 % [Penner et al., 2006]
V331A p.V362A - - ep COS cells 16 % 114 % [Noguchi et al., 2004]
D378Y p.D409Y - - ep Sf9 cells 30 % 45 % [Penner et al., 2006]
D378Y p.D409Y - - ep COS cells 10% 100% [Noguchi et al., 2004]
I472T p.I503T - - kin COS cells 48 % 5 % [Noguchi et al., 2004]
N519S p.N550S - - kin Sf9 cells 40 % 20 % [Penner et al., 2006]
A524V p.A555V - - kin COS cells 5% 30 % [Noguchi et al., 2004]
F528C p.F559C - - kin Sf9 cells 70 % 35 % [Penner et al., 2006]
F537I p.F568I - - kin Sf9 cells 45 % 60 % [Penner et al., 2006]
V572L p.V603L - - kin COS cells 68 % 8 % [Noguchi et al., 2004]
G576E p.G607E - - kin Sf9 cells 15 % 15 % [Penner et al., 2006]
I587T p.I618T - - kin Sf9 cells 55 % 35 % [Penner et al., 2006]
A630T p.A661T - - kin COS cells 80 % 40 % [Noguchi et al., 2004]
A631T p.A662T - - kin Sf9 cells 80 % 75 % [Penner et al., 2006]
A631V p.A662V - - kin Sf9 cells 70 % 65 % [Penner et al., 2006]
A631V p.A662V - - kin COS cells 75 % 5 % [Noguchi et al., 2004]
G708S p.G739S - - kin COS cells 48 % 5 % [Noguchi et al., 2004]
M712T p.M743T - - kin Sf9 cells 100% 70% [Hinderlich et al., 2004]
Cell free system
G135V p.G166V - - ep-NES cell free 0.6 % 7 % [Sparks et al., 2005]
V216A p.V247A - - ep cell free 2 % 19 % [Sparks et al., 2005]
R246W p.R277W - - ep cell free 0.5 % 17 % [Sparks et al., 2005]
A631T p.A662V - - kin cell free 3 % 12 % [Sparks et al., 2005]
M712T p.M743T - - kin cell free 3 % 8 % [Sparks et al., 2005]
1

Amino acid substitutions are provided in the previously used hGNE1 (NP_005467.1; encoded by mRNA NM_005476.5) and in the preferred new hGNE2 (NP_001121699.1; encoded by mRNA NM_001128227.2) nomenclature [Huizing et al. 2014b]. The numbering system is based on cDNA sequence; nucleotide numbering uses +1 as the A of the ATG translation initiation codon in the reference sequence, with the initiation codon as codon 1.

2

Domains correspond to GNE protein domains of Table 1 and Fig. 1. ep = UDP-GlcNAc 2-epimerase domain; ep-NES = nuclear export signal; ep-AR: allosteric region; kin = ManNAc kinase domain.

3

All enzyme activities are expressed as percentage of wild type activity.

4

Combined average activity of myoblast cell lines from 9 patients homozygous for M712T (hGNE1 nomenclature).

5

Combined average of lymphoblast cell lines from 6 patients homozygous for M712T (hGNE1 nomenclature).