Table 2 UBE2O and PCSK7 missense mutations identified in patients with primary iron overload
From: Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis
Gene (accession number) | Amino acid change | Base change | ExAC | gnomAD_exome | Polyphen-2 | SIFT | Mutation Taster | Frequency of mutation detected in primary iron overload | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
Prediction | Score | Prediction | Score | Prediction | Score | ||||||
UBE2O (NM_022066) | p.K689R | c.2066A > G | 0.0002 | 0.0002 | Probably damaging | 0.993 | Tolerable | 0.853 | Disease causing | 1.000 | 2/27 |
PCSK7 (NM_004716) | p.R711W | c.2131C > T | 0.0011 | 0.0012 | Probably damaging | 0.978 | Damaging | 0.005 | Polymorphism | 1.000 | 1/27 |
|  | p.V143F | c.427 G > T | 0.0021 | 0.0020 | Possibly damaging | 0.528 | Tolerable | 0.262 | Polymorphism | 0.997 | 2/27 |