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Table 1 Bioinformatic analysis of the POLR3B variants

From: Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

Variant

Amino acid change

Polyphen-2a

SIFTb

PROVEANc

Mutation Tasterd

ACMGe

1000Gf

gnomAD (total)g

c.2191G > C

p.E731Q

Possibly damaging (0.828)

Damaging (0.002)

Neutral (−2.02)

Disease causing (1.0)

VUS

0

0

c.3046G > A

p.V1016M

Probably damaging (1.000)

Damaging (0.000)

Damaging (−2.91)

Disease causing (1.0)

VUS

0

0

  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. eAmerican College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant classification. VUS, variants of uncertain significance
  6. fAllele frequency of variation in 1000 Genomes (1000G) database
  7. gAllele frequency of variation in total of gnomAD (genome Aggregation Database, a big database containing 123,136 exome sequences and 15,496 whole-genome sequences)