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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

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BMC Medical Genomics

ISSN: 1755-8794

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