Table 2 The bioinformatics prediction of ABCB11 missense variations found in this study.

From: The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts

Nucleotide change

Amino acid change

SIFT

Polyphen2

Evolutionary conservation

c.593T>C

L198P

0

0.99

Conserved

Affect protein function

Probably damaging

c.968G>A

G323E

0.04

1

Conserved

Affect protein function

Probably damaging

c.1664G>C

G555A

0.14

1

Average

Tolerated

Probably damaging

c.2633T>A

M878K

0.02

0.928

Variable

Affect protein function

Probably damaging

c.2636T>G

I879R

0.01

0.766

Average

Affect protein function

Possibly damaging

c.3149G>A

R1050H

0.71

1

Conserved

Tolerated

Probably damaging

c.3164T>C

L1055P

0.01

0.992

Average

Affect protein function

Probably damaging

c.3382C>T

R1128C

0

1

Conserved

Affect protein function

Probably damaging

c.3382C>G

R1128G

0

1

Conserved

Affect protein function

Probably damaging

c.3568G>A

A1190T

0.3

0.122

Variable

Tolerated

Benign

c.3691C>T

R1231W

0

1

Conserved

Affect protein function

Probably damaging

  1. SIFT sorting intolerant from tolerant.
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