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Table 2 In silico prediction of the MMAA c.365T>C variant

From: Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

Software

Score

Prediction effect

PolyPhen-2

0.999

Probably damaging

SIFT

0

Affecting protein Function

PROVEAN

−5.879

Deleterious

MutationTaster

1

Disease causing

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BMC Medical Genetics

ISSN: 1471-2350

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