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Table 3 Pathogenic VIPAR mutations listed in 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
VIPAR_00001 1 c.2 T > G Hom p.(Met1Arg) Turkish [4]
VIPAR_00021 6 c.463_464del Het p.(Trp155Glufs*4) Caucasian [14]
VIPAR_00022 6 c.484C > T Het p.(Arg162*) Caucasian [14]
VIPAR_00002 7 c.535C > T Hom p.(Gln179*) Turkish [4]
VIPAR_00023 9 c.638 T > C Het p.(Leu213Pro) - [14]
VIPAR_00003 9 c.658C > T Hom p.(Arg220*) Italian [4]
VIPAR_00003 9 c.658C > T Het p.(Arg220*) Turkish [4]
VIPAR_00007 10 c.749_753del Hom p.(Thr250Argfs*17) Croatian [4]
VIPAR_00004 11 c.808C > T Hom p.(Arg270*) Israel [4],[14]
VIPAR_00020 11i c.837-1G > T Hom p.(?) - [14]
VIPAR_00005 12 c.871C > T Het p.(Gln291*) Turkish [4]
VIPAR_00019 13 c.1021 T > C Hom p.(Cys341Arg) Pakistani [14]
VIPAR_00006 17 c.1273C > T Hom p.(Gln425*) Turkish [4]
  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.