Table 3 Details of rare and novel variants identified in poor responders by next-generation sequencing
From: Association of genetic variants with response to iron supplements in pregnancy
Gene | Nucleotide change | Type of change | Amino acid change | Prediction |
|---|---|---|---|---|
STEAP3a | c.1484 C>T | Substitution | T495M | Damaging (0.995) |
TMPRSS6a | c.1663 G>A | Substitution | P555S | Benign (0.00) |
SLC40A1b | IVS4+20C>T | Intronic | NA | None |
TFb | IVS1+41 A>T | Intronic | NA | miR-644 binding site |
TFb | IVS5+25 A>G | Intronic | NA | miR-1291 and 328 binding site Intronic enhancer |
TFb | IVS9+299C>T | Intronic | NA | Intronic enhancer |
SLC11A2b | 3′UTR+776G>A | 3′UTR | NA | miR-548m miR-555 binding site |
SLC11A2b | IVS6+200 G>A | Intronic | NA | None |
TFR2b | c.472–74 C>G | Intronic | NA | Affect splicing |
HAMPb | IVS 2+12 A>C | Intronic | NA | Intronic enhancer |