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Table 2 In silico analysis of GOT1 mutation

From: A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

VariantsAmino acid changePolyphen-2aSIFTbPROVEANcMutation TasterdSNPs&GOeFATHMM-MKLfgnomADgExACh1000 GenomesiESP6500j
c.44C > Gp.P15RPossibly damaging (0.924)Damaging (0.015)Deleterious (−7.30)Disease causing (0.9999)Disease (0.918)Damaging (0.918)0000
  1. aPolyphen-2. Prediction Scores range from 0 to 1 with high scores indicating probably or possibly damaging
  2. bSIFT, i.e., Sorting Intolerant From Tolerant. Scores vary between 0 and 1. Variants with scores close or equal to 0 are predicted to be damaging
  3. cPROVEAN. Variants with scores lower than − 2.5 (cutoff) are predicted to be deleterious
  4. dMutation Taster. The probability value is the probability of the prediction, i.e., a value close to 1 indicates a high ‘security’ of the prediction
  5. eSNPs&GO. Probability: Disease probability (if > 0.5 mutation is predicted Disease)
  6. fFATHMM-MKL. Values above 0.5 are predicted to be deleterious, while those below 0.5 are predicted to be neutral or benign
  7. gFrequency of variation in total of gnomAD database
  8. hFrequency of variation in total of ExAC database
  9. iFrequency of variation in 1000 Genomes database
  10. jFrequency of variation in ESP6500 database