71 ABCB11 mutations and immunostaining in patients with ABCB11 mutations Patient ID Sex Nucleotide change Amino acid change Mutation origin BSEP expression GGT expression 244 Female c.145C>T/- p.Q49X/- Paternal/- Absent Normal 653 Female c.1197+1G>T/c.1197+1G>T -/- Paternal/maternal Not assessed Not assessed 727 Male c.2782C>T/c.3593A>G p.R928X/p.H1198R Maternal/paternal Not assessed Not assessed 889 Female c.3457C>T/c.3623A>G p.R1153C/p.Y1208C Paternal/maternal Absent Normal 919 Female c.1493T>C/c.1493T>C p.I498T/p.I498T Paternal/maternal Not assessed Not assessed 996 Male c.612-2_4 CTA>TT/- -/- Maternal/- Absent Normal 1022 Male c.212T>A/c.677C>T p.L71H/p.S226L Paternal/maternal Absent Normal 1131 Male c.409G>A/c.2216delC p.E137K/p.P740QfsX6 De novo/paternal Absent Normal 1134 Male c.1760C>G/c.3677G>C p.S587X/p.R1226P Maternal/paternal Absent Absent 1139 Female c.2935A>G/c.3746T>G p.N979D/p.L1249X Not assessed Not assessed Not assessed 1140 Male c.542G>T/c.1370_1372dupGTG p.R181I/p.V458dup Maternal/paternal Not assessed Not assessed 1219 Female c.872T>C/c.3691C>T p.V291A/p.R1231W Maternal/paternal Not assessed Not assessed 334* Female c.2944G>A/- p.G982R/- Not assessed Normal Normal 802* Female c.3458G>A/- p.R1153H/- Not assessed Not assessed Not assessed 862* Male c.634G>A/c.849A>C/c.1638G>T p.A212T/p.E283D/p.Q546H Maternal/maternal/de novo Not assessed Not assessed 864* Male c.1727A>G/- p.N576S/- Paternal/- Normal Normal 1165* Male c.1583T>C/c.1583T>C p.I528T/p.I528T Not assessed Not assessed Not assessed 1167* Male c.334A>G/c.3233T>C p.I112V/p.I1078T Not assessed Not assessed Not assessed 1242* Male c.2783G>A/- p.R928Q/- Not assessed Not assessed Not assessed Bold: Novel mutation.

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ABCB11 p.Glu283Asp 26382629:71:1323

status: NEW

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96 Predicted effects of novel missense mutations identified in ABCB11 Missense variants Mutation taster Polyphen-2 SIFT Prediction P value Prediction Score Prediction Score c.212T>A,p.L71H Disease causing .998 Possibly damaging 0.855 Tolerated 0.11 c.334A>G,p.I112V Disease causing .999 Probably damaging 0.927 Tolerated 0.53 c.542G>T,p.R181I Disease causing .999 Benign 0.262 Damaging 0.01 c.634G>A,p.A212T Disease causing .999 Probably damaging 0.917 Damaging 0 c.849A>C,p.E283D Disease causing .999 Probably damaging 0.996 Damaging 0 c.872T>C,p.V291A Disease causing .999 Probably damaging 0.999 Damaging 0.04 c.1583T>C,p.I528T Disease causing .999 Possibly damaging 0.745 Damaging 0 c.1638G>T,p.Q546H Disease causing .999 Possibly damaging 0.800 Tolerated 0.303 c.1727A>G,p.N576S Disease causing .999 Probably damaging 0.816 Damaging 0 c.3233T>C,p.I1078T Disease causing .999 Benign 0.230 Damaging 0.02 c.3623A>G,p.Y1208C Disease causing .999 Probably damaging 1.000 Damaging 0 c.3677G>C,p.R1226P Disease causing .999 Probably damaging 1.000 Damaging 0 Prediction date, June 14, 2015; reference sequence NM_003742.2.

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ABCB11 p.Glu283Asp 26382629:96:472

status: NEW

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