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Table 1 Details of the 23 ATP7B variants retained, based on the three classifications of pathogenic, probably pathogenic and VUS

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]
  1. PP Polypen-2: D for Damaging, B for Benign. MT MutationTaster DC for Disease Causing, PM for Polymorphism HMA Heavy metal associated domain, copper ion-binding. Ref: described in Human Gene Mutation Database (HGMD)