Table 1.
Genes | HGVSa | Amino acid change | Polyphen/SIFT predictions | Cleft details | Nigerian Cases [N=140] | Ethiopian Cases [N=80] | 1KG | EVS |
---|---|---|---|---|---|---|---|---|
ARHGAP29 | c.2864G>A | p.Arg955His | Benign/tolerated | CLP | 1 | 0 | 1 | 0 |
c.2738C>A | p.Ser913Leu | Stop retained | CL | 1 | 0 | 3 | 11 | |
PAX7 | c.1396G>A | p.Gly466Ser | Benign/tolerated | CL | 0 | 1 | 0 | 0 |
c.952+2T>A** | Donor splice site variant | CL | 0 | 1 | 0 | 0 | ||
c.1282G>A** | p.Asp428Asn | Possibly damaging/deleterious | CL | 1 | 0 | 0 | 0 | |
MAFB | c.493C>G** | p.His165Asn | Benign/Tolerated | CP | 1 | 0 | 0 | 0 |
1KG = 1000 genomes, EVS= Exome variant server
New variants
Ref Seq [ARHGAP29 NM_004815.3; PAX7 NM_001135254.1; MAFB NM_00546
CL = Cleft lip CP= Cleft palate CLP = Cleft lip and palate