Table 2 of Hadrami, Mol Vis 2019; 25:373-381.


Table 2. List of variations detected by NGS in Mauritanian PCG families.

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