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Table 2 ABHD5 gene mutations

From: Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Patients DNA position cDNA o DNA mutation Protein mutation GenBank accession numbera
A-II-1 IVS 1 c.47+1G>A p.S17fsX1 HM474790
B-II-1 E 5 c.700C>T p.R234X /
C-II-2 IVS 6 c.960+5G>A p.A321VfsX10 HM474791
C-II-1 IVS 6 c.960+5G>A p.A321VfsX10 HM474791
D-II-2 E 6/IVS 6/E 7 c.898_*320del p.I300X HM474793
E-II-I E 6/IVS 6/E 7
IVS 4/E 5/IVS 5
c.[898_*320del]+
[662-1330_773+46del]
p.[I300X]+
[G221VfsX9]
HM474793;
HM474792
E-II-2 E 6/IVS 6/E 7
IVS 4/E 5/IVS 5
c.[898_*320del]+
[662-1330_773+46del]
p.[I300X]+
[G221VfsX9]
HM474793;
HM474792
  1. cDNA numbering begins with +1 as the A of the translation initiation codon; the translation initiator methionine is numbered as +1; novel mutations are typed in bold; E, exon; IVS, intervening sequence; c, cDNA; g, gene.
  2. a GenBank accession number of the new mutations identified in this study