MULTIDRUG RESISTANCE PROTEINS OF THE ABCC SUBFAMILY - Drug Transporters: Molecular Characterization and Role in Drug Disposition - page 291

TABLE 11.5. Naturally Occurring Nonsynonymous Amino Acid Substitutions in
Human ABCC1 and ABCC3
Amino Acid Effect Predicted Experimentally Proven NCBI-SNP

Substitution a by PolyPhen b Functional Consequence ID c and/or Ref.

ABCC1
p.C43S

Benign Impaired plasma membrane

localization, decreased
doxorubicin resistance 330

296

None apparent 328

p.T73I Benign 296

p.S92F Possibly damaging None apparent 328 rs8187844

None apparent 328 p.T117M Benign 325

None apparent 328 p.R230Q Benign rs8187848

p.V353M Benign rs8187852

p.R433S Benign Decreased transport, increased

doxorubicin resistance 326

326

p.R633Q Benign None apparent 328 306

p.G671V Probably damaging None apparent 331 306

None apparent 328 p.R723Q Benign 296, rs4148356

p.T844M Benign 327

p.A989T Benign Decreased 17 β -glucuronosyl

estradiol transport 328

328

p.C1047S Benign None apparent 328 rs13337489

p.R1058Q Probably damaging None apparent 328 296

p.L1247V Benign 295

p.T1401M Benign rs8057331

p.S1512L Benign None apparent 328 325

ABCC3
p.G11D Possibly damaging rs11568609

p.K13N Benign 202

p.H68Y Benign 202

p.S314I Possibly damaging rs11568580

p.S346F Benign 202, rs11568605

p.Q513K Benign 202

p.T527R Benign rs1003354

p.A528G Benign rs1003355

p.L548Q Possibly damaging 110

p.S607N Benign rs11568608

p.K718M Possibly damaging rs11568584

p.R1286G Benign rs11568593

None apparent 110

110,202, rs11568591

p.R1297H Probably damaging

p.R1348C Benign rs11568588

p.L1362V Benign rs1051625

p.Q1365R Benign rs11568590

( Continued )