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Table 2 Evaluation of SNP effects on MMAB

From: Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach

Variant

PROVEAN score

Prediction (cutoff = -2.5)

SNAP2 score

PANTHER

I-Mutant stability prediction

ΔΔG (Kcal/mol)

RIa

MUpro ΔΔG (Kcal/mol)

mCSM-NA ΔΔG (Kcal/mol)

R186W

-7.46

Deleterious

99

damaging

decrease

-0.55

6

-0.717

-0.853

R186Q

-3.7

Deleterious

89

damaging

decrease

-1.09

8

-0.669

-1.255

  1. a Reliability Index