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) |