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. 2009 Oct 20;4(10):e7165. doi: 10.1371/journal.pone.0007165

Table 1. Structural analysis of HIBM-associated missense mutations in the GNE kinase domain.

Missense Mutationa Epimerase Activity (%)b Kinase Activity (%)b Oligomeric Statec Relative Accessibility in monomerd Relative Accessibility in dimerd Secondary structure elemente Mutation site feature Mutation group
V421A 0.007 0.007 β-strand Buried IV
A460V 0.018 0.018 Helix Buried IV
I472T 50 5 0.000 0.000 β-strand Buried IV
P511H 0.416 0.416 Loop Exposed III
P511L 0.416 0.416 Loop Exposed III
N519S 40 20 hexameric 0.027 0.027 Helix Interlobar II
A524V 5 50 0.000 0.000 Helix Interlobar II
F528C 70 35 hexameric 0.140 0.140 helix end Interlobar II
F537I 45 60 0.000 0.000 β-strand start Buried IV
I557T 0.297 0.005 Loop Dimer I
G559R 0.470 0.229 Loop Dimer I
V572L 70 10 0.221 0.000 Loop Dimer I
G576E 15 15 trimeric 0.254 0.254 Loop Dimer I
I587T 55 35 0.000 0.000 helix start Buried IV
A591T 0.009 0.009 Helix Buried IV
A600T 0.000 0.000 Helix Buried IV
A630T 80 40 0.000 0.000 Helix Buried IV
A631T 80 75 hexameric 0.109 0.109 Helix Buried IV
A631V 70 65 hexameric 0.109 0.109 Helix Buried IV
I656N 0.038 0.005 Helix Buried IV
Y675H 0.000 0.000 Helix Buried IV
V679G 0.000 0.000 Helix Buried IV
V696M 0.020 0.020 β-strand Buried IV
G708S 45 5 0.000 0.000 β-strand Interlobar II
M712T 100 70 0.155 0.155 Helix Interlobar II
a

Data of missense mutations were extracted from reference [11] and [24].

b

UDP-GlcNAc epimerase and ManNAc kinase activities are percentage values relative to the corresponding activities of the full length wild type GNE. Data extracted from reference [11].

c

Oligomeric state of the full length mutant GNE. Data extracted from reference [11].

d

Relative solvent accessibility of the residue calculated using the DSSP program [30] and normalized according to values in reference [31]. A value of 1 means full exposure of the residue while a value of 0 means the residue is fully buried.

e

The type of the secondary structure element the residue is located at was assigned using the DSSP program [30].