Table 2 of McKeone, Mol Vis 2014; 20:183-199.

Table 2. Onset data.

Mutation ΔΔG FoldX (kcal/mol) Night blindness onset (decade) Daytime vision loss onset (yr) Source References
T4K 0.592 3.0 26.0 [59]
N15S 0.818 3.5 47.3 [60]
T17M −1.616 3.6 40.9 [61-64]
V20G 3.186 ND 48.0 [65]
P23A 2.712 4.0 37.4 [66]
P23H 15.47 2.0 34.4 [11,41,42,67,68]
G106R 1.778 6.0 46.4 [69-71]
G109R 11.394 2.5 ND [72]
P171Q 8.686 2.0 40.0 [73]
S176F 19.452 1.5 19.5 [65]
G182S 12.786 1.8 75.0 [62]
C187Y 40.692 1.0 26.4 [2]
D190N 3.618 4.3 33.0 [74]
D190Y 14.49 1.5 25.0 [74]
T193M 0.464 ND 49.0 [75]

Mean onset age for each intra-discal mutation. Daytime vision loss onset describes when patients first noticed a deterioration in their visual acuity or visual field, or when such a deterioration was first observed by their practitioner. Night blindness onset and daytime vision are presented in different units (decade and year respectively) due to the respective units quoted in the literature. ND=No data.

McKeone, Mol Vis 2014; 20:183-199. http://www.molvis.org/molvis/v20/183

©2014 Molecular Vision http://www.molvis.org/molvis/

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