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. 2023 Aug 22;24(17):13032. doi: 10.3390/ijms241713032

Table 1.

OCA1B mutations and unfolding mutagenesis screen data. accessed on 1 May 2022.

Mutation Conditions Clinical
Significance		 Unfolding
Fraction		 Foldability ΔΔG,
Kcal/mol
P406L OCA1(A/B) P/LP 1 15 4.27
R402Q OCA1(B) CIP 0.97 11 2.08

Conditions and clinical significance data were retrieved from the ClinVar database. P/LP: Pathogenic/likely pathogenic. CIP: Conflicting interpretations of pathogenicity.