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Table 2 Pathogenicity prediction for mutations identified in ABHD5 gene by using online in silico prediction tools

From: Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients

Coding region

Amino acid substitution

SIFTa

Mutation tasterb

Polyphen-2c

PROVEANd

Mutation Assessore

c.338G > T

p.113G > V

Deleterious

Disease causing

Probably damaging Score (1.00)

− 8.685

High functional (FI score 3.83)

c.730_731insA

p.T244Nfs*10

Deleterious

Disease causing

− 3.273

Medium functional (FI score 2.125)

  1. aSIFT classify substitutions as damaging (SIFTscore: < 0.05) or tolerant (SIFTscore: > 0.05)
  2. bEvaluate DNA sequence variants for their disease-causing potential
  3. cPolyPhen-2 appraises a mutation qualitatively, as benign, possibly damaging or probably damaging based on pairs of false positive rate (FPR) thresholds
  4. dPROVEAN (Protein Variation Effect Analyzer) v1.1: classify substitutions as Bdeleterious^ (PROVEAN score is equal to or below a predefined threshold − 2.5), and If the PROVEAN score is above the threshold, the variant is predicted to have a neutral effect
  5. eMutation Assessor gives substitutions as high functional (FI score: 3.50–5.50), medium functional (FI score: 2.00–3.50), low non-functional (FI score: 1.00–2.00) or neutral non-functional (FI score: < 1.00)