Table 2. Relationships between rhodopsin unfolding propensity, mutation class, and clinical phenotype in adRP for the selected group of pathogenic mutations, the in silico unfolding propensity, the mutational class40,41, and phenotype data.
Mutation | Predicted Unfolding | Class [38,39] | Avg. NB Onset [40] | Avg. VFL Onset [40] | Avg. VAL Onset [40] | Sample Size |
---|---|---|---|---|---|---|
N15S | 0.78 | 21 ± 3.6 | 21.7 ± 2.9 | 72.5 ± 3.5 | 3 | |
T58R | 0.89 | II | 14.3 ± 7.2 | 37 ± 23 | 35 ± 8.7 | 4 |
G106R | 0.99 | 32.2 ± 14 | 33 ± 13 | 37 ± 6.1 | 7 | |
P170R | 0.99 | 15.7 ± 1.6 | 17 ± 2.8 | — | 7 | |
P171L | 1.00 | II | 10 ± 0 | 8.3 ± 3.5 | 30.5 ± 10.6 | 4 |
Y178C | 0.99 | 10.3 ± 4.5 | — | — | 3 | |
G182S | 1.00 | II | 9.8 ± 2.4 | 24.3 ± 18 | — | 4 |
G188R | 1.00 | II | 9.5 ± 8.9 | 25.4 ± 7.1 | 30.3 ± 5.6 | 6 |
D190Y | 1.00 | II | 13.1 ± 5.8 | 17.9 ± 6.0 | 34.6 ± 10.8 | 13 |
P347L | 0.98 | 8.7 ± 4.5 | 10.2 ± 4.8 | 22 ± 10.5 | 24 |
Phenotypes were the onsets of night blindness (NB), visual field loss (VFL), and visual acuity loss (VAL). For each phenotype, the average and standard deviation were calculated using the patient data42 if the mutation was found in > 2 patients.