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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