ABCMdb

PMID: 26382629

Li L, Deheragoda M, Lu Y, Gong J, Wang J
Hypothyroidism Associated with ATP8B1 Deficiency.
J Pediatr. 2015 Dec;167(6):1334-1339.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15., [PubMed]

Sentences

No. Mutations Sentence Comment

71 ABCB11 p.Arg1153Cys ABCB11 p.Gly982Arg ABCB11 p.Arg1231Trp ABCB11 p.Ile498Thr ABCB11 p.Ile498Thr ABCB11 p.Arg1153His ABCB11 p.Asn979Asp ABCB11 p.Ser226Leu ABCB11 p.Arg928* ABCB11 p.His1198Arg ABCB11 p.Tyr1208Cys ABCB11 p.Glu283Asp ABCB11 p.Ile528Thr ABCB11 p.Ile528Thr ABCB11 p.Arg928Gln ABCB11 p.Leu1249* ABCB11 p.Arg181Ile ABCB11 p.Ala212Thr ABCB11 p.Ile1078Thr ABCB11 p.Leu71His ABCB11 p.Asn576Ser ABCB11 p.Arg1226Pro ABCB11 p.Gln546His ABCB11 p.Val291Ala ABCB11 p.Ser587* ABCB11 p.Ile112Val 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. Login to comment 96 ABCB11 p.Tyr1208Cys ABCB11 p.Glu283Asp ABCB11 p.Ile528Thr ABCB11 p.Arg181Ile ABCB11 p.Ala212Thr ABCB11 p.Ile1078Thr ABCB11 p.Leu71His ABCB11 p.Asn576Ser ABCB11 p.Arg1226Pro ABCB11 p.Gln546His ABCB11 p.Val291Ala ABCB11 p.Ile112Val 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. Login to comment