Table 1.
FOXD1 ORF sequencing in RPL, RIF, IUGR and PE patients
| Colombian RPL patients | ||||||||
| DNA | Protein | Rs | Patients | Controls* | MAF (gnomAD)*** | SIFT | PolyPhen | Evolutive conservation |
| c.263C > G | p.Ala88Gly | rs7705335 | 5/31 | 11/203 | 0.1080 | Tolerate (0,52) | Benign (0) | Yes |
| c.308G > A | p.Gly103Asp | rs1369199745 | 1/31 | 2/203 | 0.0000 | Tolerate (0,46) | Benign (0,334) | Yes |
| Colombian RIF patients | ||||||||
| DNA | Protein | Rs | Patients | Controls* | MAF (gnomAD)*** | SIFT | PolyPhen | Evolutive conservation |
| c.263C > G | p.Ala88Gly | rs7705335 | 2/30 | 11/203 | 0,1080 | Tolerate (0,99) | Benign (0) | Yes |
| c.308G > A | p.Gly103Asp | rs1369199745 | 1/30 | 2/203 | 0.0000 | Tolerate (0,46) | Benign (0,334) | Yes |
| c.799C > T | p.His267Tyr | ___ | 1/30 | 0/203 | __ | Deleterious (0,04) | Possibly deleterious (0,69) | Yes |
| c.976G > A | p.Ala326Thr | rs552595262 | 1/30 | 5/203 | 0.0000 | Deleterious (0,07) | Possibly deleterious (0,69) | Yes |
| French IUGR patients | ||||||||
| DNA | Protein | Rs | Patients | Controls** | MAF (gnomAD)*** | SIFT | PolyPhen | Evolutive conservation |
| c.168_170delGCG | p.Arg57del | rs750578392 | 1/39 | 0/361 | 0.0001 | __ | __ | Yes |
| c.263C > G | p.Ala88Gly | rs7705335 | 4/39 | 31/361 | 0.1080 | Tolerate (0,99) | Benign (0) | Yes |
| c.976G > A | p.Ala326Thr | rs552595262 | 1/39 | 11/361 | 0.0000 | Deleterious (0,07) | Possibly deleterious (0,69) | Yes |
| c.1092C > G | p.Ile364Met | rs992724147 | 1/39 | 0/361 | 0.0000 | Deleterious (0) | Deleterious (0,99) | Yes |
| c.1146_1158delCAGGCCGCCGCC | p.Gln383_Ala387delQAAA | rs771204220 | 4/39 | 18/361 | 0.0308 | __ | __ | NA |
| French PE patients | ||||||||
| DNA | Protein | Rs | Patients | Controls** | MAF (gnomAD)*** | SIFT | PolyPhen | Evolutive conservation |
| c.263C > G | p.Ala88Gly | rs7705335 | 6/31 | 31/361 | 0.1080 | Tolerate (0,99) | Benign (0) | Yes |
| c.976G > A | p.Ala326Thr | rs552595262 | 2/31 | 11/361 | 0.0000 | Deleterious (0,07) | Possibly deleterious (0,69) | Yes |
| French PE + IUGR patients | ||||||||
| DNA | Protein | Rs | Patients | Controls** | MAF (gnomAD)*** | SIFT | PolyPhen | Evolutive conservation |
| c.263C > G | p.Ala88Gly | rs7705335 | 1/27 | 31/361 | 0.1080 | Tolerate (0,99) | Benign (0) | Yes |
| c.1067C > G | p.Ala356Gly | rs917127030 | 1/27 | 0/361 | 0.0000 | Deleterious (0,01) | Benign (0,001) | Yes |
| c.1187C > T | p.Pro396Leu | rs540644822 | 1/27 | 2/361 | 0,0042 | Tolerate (0,2) | Benign (0,1) | Yes |
*Colombian controls, **French controls, ***gnomAD v2.1.1 (controls)
Bold data are significant