Table 3 Prediction of the pathogenic effect of candidate variants.

From: An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Gene

Reference sequence

Sequence variation

Protein variation

SIFT score

FATHMM score

MutationTaster rank score

PROVEAN score

ERLIN2

NM_007175.7

c.452ā€‰Cā€‰>ā€‰T

p.A151V

0.036 (Damaging)

āˆ’3.55 (Damaging)

0.708 (Disease-causing)

āˆ’3.24 (Damaging)

CCT8

NM_006585.3

c.1537ā€‰Aā€‰>ā€‰G

p.N513D

0.896 (Tolerated)

āˆ’1.12 (Tolerated)

0.708 (Disease-causing)

āˆ’0.95 (Neutral)

ZNF623

NM_014789.3

c.364ā€‰Gā€‰>ā€‰C

p.A122P

1.0 (Tolerated)

2.85 (Tolerated)

0.101 (Neutral)

2.99 (Neutral)

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