D364N amino acid replacement (G1090A nucleotide substitution) within Nup107, a change that is equivalent to the D447N mutation in the human NUP107 ortholog, a variant associated with XX-gonadal dysgenesis. Two silent mutations (C to T and T to C nucleotide substitutions) have also been introduced.
G10734856A
GAT>AAT
D364N | Nup107-PA
D364N
Analogous D447N mutation in human NUP107 implicated in ovarian dysgenesis 6. Two nearby silent mutations were also introduced.