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Table 3 Comparison of two BEST1 variants

From: Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

Proband ID BEST1 variant Agea [years] BCVA bLE BCVA bRE logMAR cave Mean BDSId [%] |ΔΔEdim|e [kcal mol−1] PMVAf Estimated BEST1 variant pathogenicity
P4 p.(Vla9Gly) 27 0.0 0.6 0.30 17.6 34 0.29 Likely non-pathogenic
P17 p.(Ser108Arg) 26 0.1 1.0 0.55 32.6 96 0.59 Likely pathogenic
  1. aAge of proband at last clinical evaluation
  2. bBCVA (best-corrected visual acuity) in logMAR scale of left (LE) and right eye (RE)
  3. cAverage BCVA value (logMARLE + logMARRE)/2
  4. dMean age-adjusted Best’s Disease Severity Index
  5. eModulus of computed relative energy of variant BEST1 subunit dimerization
  6. fPMVA—predicted mean visual acuity (logMARLE + logMARRE)/2 of an individual with a given bestrophin-1 variant at age 40 years