Table 2 Bioinformatics analysis of 18 novel ABCB4 gene variants
Mutations | MutationTaster | PolyPhen-2 | FATHMM-MKL | CADD | Varseak | SpliceAI | SIFT | FATHMM-indel | 3D protein model |
|---|---|---|---|---|---|---|---|---|---|
c.2949del (p.A984Qfs*4) | D | – | – | – | – | – | D | D | – |
c.589C > T (p.Q197*) | D | – | D | D | – | – | – | – | – |
c.1230 + 1G > A | – | – | D | D | S (CLASS 5: splicing effect) | S (Donor Loss score: 0.91; Donor Gain score: 0.38) | – | – | – |
c.2914G > A (p.D972N) | D | B | D | D | – | – | – | – | YES |
c.33–48delCTGGCGCCCCACGAGC (p.W12Rfs*21) | D | – | – | – | – | – | N | N | – |
c.3252_3264del p.F1085Wfs*57 | D | – | – | – | – | – | D | – | – |
c.1058G > A (p.C353Y) | D | P | B | D | – | – | – | – | YES |
c.956G > T (p.G319V) | D | ProbD | D | D | – | – | – | – | YES |
c.473 T>A (p.L158Q) | D | ProbD | D | D | – | – | – | – | YES |
c.164 T>C (p.L55S) | D | ProbD | D | D | – | – | – | – | YES |
c.2288 T > C (p.I763T) | D | ProbD | D | D | – | – | – | – | YES |
c.2493G > C (p.R831S) | D | ProbD | D | D | – | – | – | – | YES |
c.1150G > C (p.G384R) | D | ProbD | D | D | – | – | – | – | YES |
c.1650C > A (p.N550K) | D | PossD | D | D | – | – | – | – | YES |
c.2317-5A > G (splice) | – | – | B | D | S (CLASS 5: splicing effect) | S (Acceptor Loss score: 0.55; Acceptor Gain score: 0.54) | – | – | – |
c.2478 + 6 T > C (splice) | – | – | D | D | S (CLASS 4: Likely splicing effect) | S (Donor Loss SCORE: 0.76) | – | – | – |
c.3269_3271del (p.Ala1090del) | D | – | – | – | – | – | D | D | – |
c.2394 + 82C > T | – | – | B | B | N | N | – | – | – |