Table 3.
Summary of the Genetic and Protein Characteristics of the Six Missense GR Variants
| DNA Modification | Protein Modification | Amino Acid Nature’s Modification | Predicted Pathogenicity (MutationTaster) | Allelic Frequency (ExAC) | Interspecies Conservation (UCSC Genome Browser) | |||
|---|---|---|---|---|---|---|---|---|
| Mammary | Chicken | Xenope | Zebrafish | |||||
| exon2: c.193T>G | F65V | 0 | Disease causing | 153/121406 | + | + | − | − |
| exon2: c.256A>G | M86V | 0 | Disease causing | 9/121218 | + | + | + | + |
| exon2: c.685G>A | A229T | Apolar → polar | Disease causing | 165/120812 | + | + | − | − |
| exon2: c.911C>A | A304E | Apolar → negative | Disease causing | 1/121284 | + | + | − | − |
| exon2: c.1121A>G | N374S | 0 | Polymorphism | 1/121308 | + | − | − | − |
| exon2: c.1157G>A | R386Q | Positive → polar | Disease causing | 0 | + | + | − | + |
Amino acid nature’s modification = conserved nature. Allelic frequency by ExAC and interspecies conservation by University of California Santa Cruz (UCSC) Genome Browser. Mammals correspond to human, Rhesus monkey, mouse, dog, and elephant (+ conservation and − variation of the amino acid between species), and predicted pathogenicity is by MutationTaster.