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Table 2 Pathogenic VPS33B mutations listed in the ARC-LOVD database

From: Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

Database ID Exon DNA change Status Protein change Ethnicity Reference
VPS33B_00235 1-23 c.(?_-354)_(*431 + d127_?)del Het p.(0?) Hispanic [14]
VPS33B_00232 4 c.240-577_290-156del Het p.(Leu81Serfs*5) South American [14]
VPS33B_00221 1 c.67C > T Het p.(Arg23*) - [14]
VPS33B_00001 1 c.89 T > C Hom p.(Leu30Pro) Pakistani [3]
VPS33B_00223 1i c.97-2A > C Hom p.(?) - [14]
VPS33B_00002 2 c.151C > T Het p.(Arg51*) French [8]
VPS33B_00011 2i c.177 + 1G > A Hom p.(?) Italian [3]
VPS33B_00231 2i c.178-2A > C Hom p.(?) Turkish [14]
VPS33B_00224 2i c.178-1G > C Hom p.(?) Pakistani [14]
VPS33B_00233 3i c.240-1G > C Hom p.(?) - [14]
VPS33B_00003 4 c.277C > T Het p.(Arg93*) South American [8]
VPS33B_00004 5 c.319C > T Het p.(Arg107*) Scottish [8]
VPS33B_00005 5 c.352C > T Hom p.(Gln118*) Turkish [7]
VPS33B_00023 5 c.350del Hom p.(Pro117Leufs*20) Saudi Arabia [3]
VPS33B_00024 6 c.369_370del Het p.(Cys123*) South American [8]
VPS33B_00013 6i c.403 + 1G > T Het p.(?) Scottish [8]
VPS33B_00012 6i c.403 + 1G > A Het p.(?) Israel [3]
VPS33B_00014 6i c.403 + 2 T > A Het p.(?) Korean [7]
VPS33B_00025 7 c.436_445del Het p.(Leu146Metfs*5) French [8]
VPS33B_00015 7i c.498 + 1G > A Het p.(?) Swedish [4]
VPS33B_00026 8 c.558_559del Het p.(Tyr187Trpfs*18) Italian [8]
VPS33B_00006 9 c.661C > T Het p.(Arg221*) Korean [21]
VPS33B_00016 9i c.701-1G > C Hom p.(?) Israel [25]
VPS33B_00017 9i c.700 + 1G > A Het p.(?) Saudi Arabia [15]
VPS33B_00225 10 c.711del Het p.(Phe237Leufs*2) Pakistani [14]
VPS33B_00007 10 c.728C > T Het p.(Ser243Phe) Korean [7]
VPS33B_00027 10 c.740_741del Het p.(Tyr247*) Korean [7]
VPS33B_00226 11i c.853-3C > G Hom p.(?) Turkish [14]
VPS33B_00019 11i c.853-2A > G Het p.(?) Portuguese [3]
VPS33B_00018 12i c.940-1G > A Het p.(?) French [8]
VPS33B_00028 13 c.971del Hom p.(Lys324Argfs*11 Pakistani [17]
VPS33B_00227 13i c.1030 + 5G > T Hom p.(?) Saudi Arabia [14]
VPS33B_00029 16 c.1208del Het p.(Leu403Cysfs*8) Tahitian [8]
VPS33B_00230 16i c.1225 + 5G > C Het p.(?) South American [14]
VPS33B_00033 17 c.1235_1236delCCinsG Hom p.(Pro412Argfs*7) Polish [7]
VPS33B_00229 17 c.1261_1262del Het p.(Gln421Valfs*8) South American [14]
VPS33B_00008 18 c.1312C > T Hom p.(Arg438*) Pakistani [3]
VPS33B_00008 18 c.1312C > T Het p.(Arg438*) Saudi Arabia [15]
VPS33B_00008 18 c.1312C > T Het p.(Arg438*) Pakistani [14]
VPS33B_00219 18i c.1406-2A > G Hom p.(?) Saudi Arabia [3]
VPS33B_00220 18i c.1406-1G > C Hom p.(?) Turkish [8]
VPS33B_00228 20 c.1498G > T Hom p.(Glu500*) Hispanic [14]
VPS33B_00030 20 c.1509dupG Het p.(Lys504Glufs*23) Korean [7],[21]
VPS33B_00009 20 c.1519C > T Het/Hom p.(Arg507*) Portuguese [3],[18]
VPS33B_00218 20 c.1519C > T Het p.(Arg507*) Korean [21]
VPS33B_00031 20 c.1576_1577insT Hom p.(Glu526Valfs*13) Polish [7]
VPS33B_00010 21 c.1594C > T Hom p.(Arg532*) Pakistani [3]
VPS33B_00234 21i c.1657 + 1G > A Hom p.(?) Italian [14]
VPS33B_00032 23 c.1803dupA Het p.(Val602Serfs*13) Korean [7]
  1. Del, deletion; Fs, frameshift; i, intron; , stop; , whole exon deletion; Het, heterozygous; Hom, homozygous.
  2. p.(?), effect of the variant on the protein is unknown.
  3. p.(0?), no protein product is predicted.