# Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort
## 3 Results
### Pathogenic Analysis
Figure 8: Exonic region of the human _NRIP1_ (NM_003489.4) gene located on the long arm of chromosome 21. Nucleotide sequence analysis identified a polymorphic variant located in the end region of the intronless _NRIP1_ gene (blue box). \begin{table}
\begin{tabular}{c c c c c c c c c} \hline \hline
**Gene** & **Nucleotide** & **Genotype** & **Reference** & **Function** & **Genotype** & **Allele Frequencies** & **Genotype** & **Allele Frequencies** \\  & **Variants** & & & **SNP** & **Function** & **(POI)** & **(POI)** & **(Controls)** & **(Controls)** \\ \hline \hline \(NR5A1\) & c.437G\(>\)C & G/G & rs1110061 & Non- & & & & & \\  & & C/C & & & & & & \\  & & G/C & & & & & & \\  & IVS4\(-\)20C\(>\)T & C/C & This study & & & & & \\  & T/T & & & & & & \\  & C/T & & & & & & \\  & IVS2\(-\)12G\(>\)C & G/G & rs12122995 & & & & & \\  & & C/C & & & & & \\  & & G/C & & & & & \\  & IVS3+13C\(>\)T & C/C & rs13376365 & & & & & \\  & & T/T & & & & & \\  & & C/T & & & & & \\  & c.741T\(>\)C & T/T & rs12046958 & & & & \\  & & C/C & & & & & \\  & & T/C & & & & & \\ ZNF275 & c.969C\(>\)T & T/T & This study & & & & & \\  & C/C & & & & & & \\  & C/T & & & & & & \\  & C/T & & & & & & \\ NRIP1 & c.3403C\(>\)T & C/C & rs61750207 & Non- & & & & \\  & T/T & & & & & & \\  & C/T & & & & & & \\  & C/T & & & & & & \\ \hline \hline \end{tabular}
\end{table} 
Table 1: _Cont._ \begin{table}
\begin{tabular}{c c c c c c c c} \hline \hline
**Gene** & **Location** & **Nucleotide** & **Amino Acid** & **PolyPhen-2** & **PROVEAN** & **MutationTaster** & **VarSite** \\ \hline \hline \(WT1\) & Exon 1 & c.213G\(>\)T & p.P71= & ND & Neutral & ND & ND \\  & Exon 1 & c.609T\(>\)C & p.N203= & ND & Neutral & Benign & Benign (0.00) & (0.00) \\  & Exon 3 & c.873A\(>\)G & p.R291= & ND & Neutral & Benign & Benign (0.00) & (1.29) \\  & Exon 7 & c.112G\(>\)A & p.R374= & ND & Neutral & Benign & Benign (0.00) & (0.32) \\ \(NROB1\) & Exon 1 & c.353C\(>\)T & p.A118V & Benign & Neutral & Benign & Benign \\  & Exon 1 & c.498G\(>\)A & p.R166= & ND & Neutral & Benign & Benign (0.61) \\ \(NR5A1\) & Exon 4 & c.437G\(>\)C & p.G146A & Benign & Neutral & Benign & Benign \\  & Intron IVS4\(-\)20C\(>\)T & ND & ND & ND & ND & ND & ND \\  & Intron II & IVS2\(-\)12G\(>\)C & ND & ND & ND & ND & ND \\  & Intron III & IVS3+13C\(>\)T & ND & ND & ND & ND & ND \\  & Exon 4 & c.741T\(>\)C & p.N247= & ND & Neutral & Benign & Benign (0.74) \\ ZNF275 & Exon 3 & c.969C\(>\)T & p.C323= & ND & Neutral & Benign & Benign \\  & & & & & & & \\ NRIP1 & Exon 1 & c.3403C\(>\)T & p.R1135C & Benign(0.003) & Deleterious (\(-\)2.796) & (180) & (2.55) \\ \hline \hline \end{tabular}
\end{table} 
Table 2: A summary of the predicted functional effects of the \(WT1\) (NM_02426.6), \(NROB1\) (NM_000475.5), \(NR5A1\) (NM_004959.5), \(LHY3\) (NM_020204.3), \(ZNF275\) (NM_001080485.4), and \(NRIP1\) (NM_003489.4) variants from patients with POI and healthy controls. PolyPhen-2 (benign with a score of 0.0, possibly damaging with a score of 0.5, or probably damaging with a score of 1.0), PROVEAN (neutral effect for scores above the threshold or deleterious effect for scores equal to or below the predefined threshold), MutationTaster (scores range from 0.0 to 215 but no values provided for amino acid insertions/deletions), and VarSite (scored according to Fauchere [PERSON]’s hydrophobicity scale).