From: High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence
Chromosomal position/change | rs ID | Allele Count | Exon | Nucleotide | Protein | Protein Domain | Max ExAC MAF (%), | PhyloP | PP | MT | CARD | Allele Count (1394 total alleles), | Lariboisiere database allele count (1208 total alleles) | Classification | Ref |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
g.52549234 T > C | rs201738967 | 1 | 2 | c.122A > G | p.Asn41Ser | – | European: 0.040% | 2.63 | D | DC | 24.4 | 1 | 1 | pathogenic | [14] |
g.52535997A > G | rs186924074 | 2 | 6 | c.1922 T > C | p.Leu641Ser | HMA | European: 0.078% | 2.87 | D | DC | 27.4 | 2 | 1 | pathogenic | [15] |
g.52535985A > C | rs121907998 | 1 | 6 | c.1934 T > G | p.Met645Arg | – | European: 0.021% | 0.69 | B | DC | 14.09 | 1 | 11 | pathogenic | 13, [16] |
g.52534281 T > C | – | 1 | Intron 7 | c.2121 + 3A > G donor splicing site utilisation: − 100% | p.? | – | European: 0.000090% | 0.69 | – | DC | 7.698 | 1 | 0 | pathogenic | [17] |
g.52532619A > G | rs760713333 | 1 | 8 | c.2183A > G | p.Asn728Ser | P-Type ATPASe | Asian: 0.046% | 3.43 | D | DC | 22.8 | 1 | 0 | pathogenic | [18] |
g. 52524268C > T | rs191312027 | 1 | 11 | c.2605G > A | p.Gly869Arg | P-Type ATPASe | Asian: 0.023% | 6.10 | D | DC | 34 | 1 | 1 | pathogenic | [16] |
g.52520559G > A | rs201061621 | 1 | 13 | c.2921C > T | p.Thr974Met | P-Type ATPase | African: 0.033% | 5.94 | D | DC | 28.8 | 1 | 0 | pathogenic | 11 |
g.52513198 T > C | rs200911496 | 1 | 17 | c.3688A > G | p.Ile1230Val | P-Type ATPase | Asian: 0.012% | 4.89 | D | DC | 24.9 | 1 | 1 | pathogenic | 11 |
g.52511409 T > C | rs565970531 | 1 | Intron 19 | c.4021 + 3A > G donor splicing site utilisation: − 100% | p.? | – | Asian: 0.2791% | 1.17 | – | DC | 9.707 | 1 | 0 | pathogenic | [19] |
g.52509155G > A | rs181250704 | 4 | 21 | c.4135C > T | p.Pro1379Ser | – | European: 0.18% | 2.87 | D | DC | 28.5 | 4 | 0 | pathogenic | [15] |
g.52518403-52518403delinsG | – | 1 | 14 | c.3083-3085delinsG | p.Lys1028Serfs*40 | P-Type ATPase | – | 4.97 1.34 4.89 | D | DC | – | 1 | 1 | pathogenic | this study |
g.52524498C > G | rs181388674 | 1 | 10 | c.2485G > C | p.Asp829His | P-Type ATPase | – | 6.10 | D | DC | 32 | 1 | 0 | Likely pathogenic | this study |
g.52511803 T > C | – | 1 | 18 | c.3712A > G | p.Lys1238Glu | P-Type ATPase | – | 4.81 | D | DC | 27.5 | 1 | 0 | Likely pathogenic | this study |
g.52511700G > C | – | 1 | 18 | c.3815C > G | p.Ser1272Cys | P-Type ATPase | – | 5.86 | D | DC | 25.9 | 1 | 0 | Likely pathogenic | this study |
g.52534283G > A | rs751235573 | 1 | Intron 7 | c.2121 + 1G > A donor splicing site utilisation: −100% | p.? | – | European: 0.00090% | 5.86 | – | DC | 25.6 | 1 | 0 | Likely pathogenic | this study |
g.52532611C > A | _ | 1 | 8 | c.2191G > T | p.Val731Leu | P-Type ATPase | European: 0.0018% | 6.02 | D | DC | 25.8 | 1 | 0 | Likely pathogenic | this study |
g.52513215C > A | rs532177115 | 1 | 17 | c.3671G > T | p.Arg1224Leu | P-Type ATPase | African: 0.0102% | 4.24 | D | DC | 34 | 1 | 0 | Likely pathogenic | this study |
g.52511739C > T | – | 1 | 18 | c.3776G > A | p.Gly1259Glu | P-Type ATPase | European: 0.0018% | 3.11 | D | DC | 26.9 | 1 | 0 | Likely pathogenic | this study |
g.52508989G > A | rs60986317 | 9 | 21 | c.4301C > T | p.Thr1434Met | – | African: 0.57% | 1.09 | D | PM | 24,1 | 9 | 0 | VUS | 10 |
g.52542680A > G | rs138427376 | 1 | 4 | c.1607 T > C | p.Val536Ala | HMA | Finland: 1.15% | 0.45 | B | PM | 9.214 | 1 | 0 | VUS | 7, 11 |
g.52542666C > T | rs187046823 | 1 | 4 | c.1621G > A | p.Glu541Lys | HMA | European: 0.019% | 0.53 | B | PM | 5.930 | 1 | 0 | VUS | 7 |
g.52534410C > T | rs72552259 | 3 | 7 | c.1995G > A | p.Met665Ile | – | European: 0.1685% | 2.38 | B | DC | 24 | 3 | 0 | VUS | 7, [12] |
g.52511626C > T | rs148399850 | 1 | 18 | c.3889G > A | p.Val1297Ile | P-Type ATPase | Asian: 1.5% | 1.13 | B | DC | 18.36 | 1 | 0 | VUS | 10, [13] |