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Table 3 Bioinformatical prediction data

From: Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

Tool Score Prediction
Polyphen-2 1.00 Damaging
PROVEAN − 3.969 Deleterious
Mutation taster Disease-causing
Mutation assessor 4.965 HIGH
MUTPRED2 0.882
SIFT 0.001 Damaging
PMUT 94% Disease
CADD 17.33 Likely benign
M-CAP 0.458 Possibly pathogenic
REVEL 0.5 Likely disease-causing