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Table 3 Effects of TUBB8 mutations predicted with in-silico tools

From: Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest

cDNA alteration

Amino acid alteration

Exon

Frequency in our cohort

dbSNP

ExAC allele frequency

ExAC homozygotes frequency

SIFTa

PolyPhen 2b

c. 938C > T

p. A313V

4

1/11

Not found

3/116668

Not found

N

0.013(B)

c.717C > G

p.C239W

4

1/11

Not found

Not found

Not found

D

0.999(D)

c.752G > A

p.R251Q

4

1/11

Not found

Not found

Not found

D

0.966(D)

c.1073C > T

p.P358L

4

1/11

Not found

Not found

Not found

D

1.0(D)

c.286G > A

p.G96R

4

1/11

Not found

Not found

Not found

D

1.0(D)

  1. aEffects of mutation predicted by SIFT
  2. bEffects of mutation predicted by Polyphen 2
  3. B Benign, D Deleterious, N Neutral