TABLE 3
Published uncharacterized TRIOBP variants in comparison with the South African missense variants
| Genotype | Phenotype | Ethnicity | Reference | |||
|---|---|---|---|---|---|---|
| Allele 1 code | Allele 1 | Allele 2 code | Allele 2 | Pathogenicity of variants | ||
| 3A1 | c.2532G > T (p.Leu844Arg) | 3A2 | c.3484C > T (p.Pro1161Leu) | Benign | South African | Current study |
| 3B1 | c.2590C > A (p.Asn867Lys) | 3B2 | c.3621 T > C (p.Phe1187Leu) | Benign | South African | Current study |
| 3C1 | c.505C > A (p.Asp168Glu) | 3C2 | c.572del (p.Pro191Argfs*50) | p.Asp168Glu Benign | South African | Current study |
| 3D1 | c.3636 T > A p.Leu1212Gln | Unknown | Likely benign | South African | Current study | |
| 3E1 | c.154G > A (p.Asp52Asn) | 3E2 | Unknown | Uncertain significance | Japanese | Miyagawa et al. (2013); Yan et al. (2016) |
| 3F1 | c.2992G > A(p.Ala998Thr) | 3F2 | c.5767G > A(p.Ala1923Thr) | Uncertain significance | Unknown | Sloan‐Heggen et al. (2016); Zhao and Muller (2015) |
| 3G1 | c. 3349C > T (p.Arg1117*) | 3G2 | c.4691G > C (p.Gly1564Ala) | Uncertain significance | Unknown | Sloan‐Heggen et al. (2016); Zhao and Muller (2015) |
| 3H1 | c.3451A > G (p.Met1151Val) | 3H2 | c.4187C > G (p.Pro1396Arg) | Uncertain significance | Unknown | Fardaei et al. (2015); (2015) |
| 3 J1 | c.3662G > A (p.Arg1221Gln) c.3942G > C (p.Glu1314Asp) | 3 J2 | c.6736G > A (p.Glu2246Lys) | Uncertain significance | Unknown | Sloan‐Heggen et al. (2016); Zhao and Muller (2015) |
| 3 K1 | c.4840G > T (p.Gly1614Cys) | 3 K2 | Unknown | Uncertain significance | Japanese | Miyagawa et al. (2013); Yan et al. (2016) |
| 3 L1 | c.5519G > A (p.Arg1840His) | 3 L2 | Unknown | Uncertain significance | Japanese | Miyagawa et al. (2013); Yan et al. (2016) |
| 3 M1 | c.6362C > T (p.Ser2121Leu) | 3 M2 | c.6362C > T (p.Ser2121Leu) | Uncertain significance | Iranian | Fardaei et al. (2015); Flock and Cheung (1977) |
| 3 N1 | c.6860G > A (p.Arg2287His) | 3 N2 | Unknown | Uncertain significance | Japanese | Miyagawa et al. (2013); Yan et al. (2016) |
Note: NCBI Reference Sequence: NC_000022.11 used.