MULTIDRUG RESISTANCE PROTEINS OF THE ABCC SUBFAMILY - Drug Transporters: Molecular Characterization and Role in Drug Disposition - page 290

TABLE 11.4. Nucleotide Sequence Variants in the Human ABCC2 Gene Identified in Patients with Dubin-Johnson Syndrome
Affected Region in

Nucleotide Change a Consequence Predicted a ABCC2 Protein b Type of Variant Location First Reported (Ref.)

Nonsense Exon 3 c.298 C > T c p.R100X Truncation in MSD0 270

Splicing Exon 8 c.1031 + 4A > G Complex splicing Truncation in MSD1 271

Missense Exon 9 c.1177 C > T p.R393W MSD1 272

In-frame indel Exon 10 c.1256 1272indelCT c p.E419 M424indelA Disruption of MSD1 273

Missense Exon 10 c.1321 C > A c p.L441M MSD1 274

Splicing Exon 13 c.1815 + 2T > A Exon 13 skipping Disruption of MSD1 275

Splicing Exon 15 c.1967 + 2T > C p.K635X Truncation in NBD1 276

Missense Exon 16 c.2026 G > C c p.G676R NBD1 277

Missense Exon 17 c.2125 T > C p.W709R NBD1 278

Missense Exon 18 c.2302 C > T p.R768W NBD1 275

Splicing Exon 18 c.2439 + 2T > C Exon 18 skipping Disruption of NBD1 20

c.2748 2838del c Deletion Exon 21 p.S916fsX Truncation in MSD2 274

Nonsense Exon 23 c.3196 C > T p.R1066X Truncation in MSD2 156

c.3399 3400del c Deletion Exon 24 p.Y1134CfsX Truncation in MSD2 274

Missense Exon 25 c.3449 G > A p.R1150H MSD2 279

Missense Exon 25 c.3517 A > T p.I1173F MSD2 279

c.3615 3843del c Deletion Exon 26 p.W1206fsX Truncation in MSD2 274

c.3825 C > G c

Nonsense Exon 27 p.Y1275X Truncation in MSD2 274

c.3928 C > T c Nonsense Exon 28 p.R1310X Truncation in NBD2 282

c.4054 G > C c Missense Exon 29 p.E1352Q NBD2 274

>

G c

Missense Exon 29 c.4145 A p.Q1382R NBD2 20

Deletion Exon 30 c.4175 4180del p.R1392 M1393del NBD2 19

Deletion Exon 30 c.4292 4293del c p.T1431RfsX Truncation in NBD2 273

a As recommended by the Human Genome Variation Society (http://www.hgvs.org/mutnomen) and by ref. 263, nucleotide position + 1 is the A of the ATG of the
translation initiation codon in the ABCC2 cDNA sequence, “c.” describes a nucleotide change in relation to the ABCC2 cDNA sequence (NM 000392), “p.” describes
a change in relation to the ABCC2 protein sequence deduced (NP 000383), “X” denotes a premature stop codon, “fs” denotes a frame shift, and “indel” denotes