Table 2 of Hadrami, Mol Vis 2019; 25:373-381.
ID | Ethnic origin | Gene | Mode of inheritance | Location | Nucleotide change | Allelic form | Amino acid change | Frequencies (ESP, ExAc, GnomAd) | Polyphen2 | SIFT | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|
BGMF1 | white Maure | CYP1B1 | AR | Exon 2 | c.217_218del | Homo zygous | p.(Ser73Valfs*150) | ExAc:AALL:0.00057%-AFR:0.010%-AMR:0%-EAS:0%-SAS:0%-NFE:0%-FIN:0%-OTH:0%; | n.a. | n.a. | Chen et al., 2014 |
BGMF2 | white Maure | MYOC | AR | Exon 3 | c.878C>A | Homo zygous | p.(Thr293Lys) | ExAc: ALL:A=0.058%-AFR:0.020%-AMR:0.13%-EAS:0%-SAS:0%-NFE:0.057%-FIN:0%-OTH:0.13%; ESP: EA: T=0.05% - AA: T=0.07%; GnomAd: 0.0005603, never homozygous | Benign | Tolerated | rs139122673 |
BGMF3 | black African | NTF4 | AD | Exon 2 | c.601T>G | Hetero zygous | p.Cys201Gly | - | Probably damaging | Deleterious | Novel |
BGMF4 | black African | WDR36 | AD | Exon 18 | c.2078A>G | Hetero zygous | p.Asn693Ser | ALL:G=0.0024%-AFR:0.020%-AMR:0.0089%-EAS:0%-SAS:0%-NFE:0%-FIN:0%-OTH:0%; GnomAD: 0.00002394 never homozygous | Probably damaging | Deleterious | rs752189803 |