Table 2 Genetic variants of ABCB4, ABCB11, ATP8B1 and TJP2
Gene | Patient | Rs# | Chr | Position, bp | Alleles | Protein change | SIFT | MAF in 151 ICP patients | MAF in controls | MAF in 1000G | MAF in ExAC |
|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB4 | ICP133,135 | Novel | 7 | 87,073,053 | T/C | Lys386Glu | 0.002 (D) | 0.0066 [2/(151*2)] | 0 [0/(1029*2)] | NPa | NP |
| Â | ICP154 | Novel | 7 | 87,069,134 | C/T | Gly527Glu | 0.0 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
|  | ICP21 | Novel | 7 | 87,053,310 | C/T | Trp708Ter | — | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP97 | rs1202754797 | 7 | 87,081,001 | G/A | Leu216Phe | 0.001 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP153 | rs201502889 | 7 | 87,079,314 | G/A | Ala268Val | 0.001 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | 0.0002 | 0.001 |
ABCB11 | ICP2 | Novel | 2 | 169,826,599 | G/T | Leu589Met | 0.0 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP118 | Novel | 2 | 169,826,057 | T/G | Gln605Pro | 0.006 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
|  | ICP115 | Novel | 2 | 169,783,704 | G/A | Gln1194Ter | — | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP109 | rs1174631566 | 2 | 169,787,197 | T/C | Tyr1130Cys | 0.0 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP113 | rs376216286 | 2 | 169,820,808 | G/A | Arg696Trp | 0.004 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
ATP8B1 | ICP134 | rs150268416 | 18 | 55,399,014 | G/A | Thr9Met | 0.003 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP85 | rs781746896 | 18 | 55,355,543 | C/T | Gly473Arg | 0.0 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP43 | rs752045131 | 18 | 55,338,750 | G/A | Arg628Trp | 0.001 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
TJP2 | ICP75 | Novel | 9 | 71,835,934 | G/T | Arg189Ser | 0.005 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP26 | rs144396411 | 9 | 71,833,267 | G/A | Ala143Thr | 0.004 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | 0.00059 | 0.003 |
| Â | ICP7 | rs189916909 | 9 | 71,836,337 | C/T | Arg324Trp | 0.014 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | 0.000399 | 0.001 |
| Â | ICP132 | rs760622082 | 9 | 71,851,917 | C/T | Arg713Trp | 0 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | NP | NP |
| Â | ICP96 | rs201366118 | 9 | 71,851,954 | G/A | Gly725Glu | 0.007 (D) | 0.0033 [1/(151*2)] | 0 [0/(1029*2)] | 0.0002 | 0.001 |