Table 4 ABCB4 variant information and damage prediction.

From: Association between ABCB4 variants and intrahepatic cholestasis of pregnancy

Variant location

Protein change

PolyPhen2a

Mutation Tasterb

Proveanc

SIFTd

Mutpred2e

c.175 C > T

Leu59Leu

-

0.00023(N)

-

-

-

c.504 C > T

Asn168Asn

-

0.94094(N)

-

-

-

c.711 A > T

ILe237ILe

-

4.23E-15(N)

-

-

-

c.1954 A > G

Arg652Gly

0.06

0.99999(N)

-0.1

0.355

0.03

  1. aPolyphen2 can only detect missense variant (c.1954 A > G), with a score between 0 and 1. The closer it is to 0, the less impact it has on the protein; The closer to 1, the greater the impact on protein.
  2. bThe Mutation Taster score ranges from 0 to 1, indicating the probability of the mutation occurring.
  3. cProvean score of less than − 2.5 indicates deleterious, more than − 2.5 indicates neutral.
  4. dSIFT score less than 0.05 indicates probable pathogenic, and a SIFT score greater than 0.05 indicates probable non-pathogenic.
  5. eMutpred2 score less than 0.5 indicates probable non-pathogenic, and a SIFT score greater than 0.5 indicates probable pathogenic. N: Polymorphism.
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