TABLE 5

Prediction of functional consequences of non-synonymous SNPs in ABCB4 and ABCB11

Grantham values range from 5 to 215; low values (<50) indicate chemical similarity and high values (≥50) indicate more radical differences. SIFT (sorting intolerant from tolerant) values range from 0 to 1; values close to 0 are less tolerated, whereas those near 1 are better tolerated substitutions. PolyPhen calculates PSIC (position-specific independent counts) scores for two amino acid variants in the polymorphic position. Large differences (>1.5) are less tolerated. BLOSUM62 values range from -4 to +3, with negative values indicating less acceptable and non-negative values indicating more acceptable substitutions. EC/EU classifies nonsynonymous variants as evolutionary conserved (EC) or -unconserved (EU) based on sequence alignments with mammalian orthologs.


Amino Acid Change

Scoring Systems for Nonsynonymous Variants
Grantham
SIFT
PolyPhen
Blosum62
EC/EU
MDR3
    D87E 45 1.00 0.48 2 EC
    P95S 74 0.48 0.87 -1 EC
    T175A 58 0.01 0.72 -1 EC
    I367V 29 0.23 0.96 3 EC
    E450G 98 0.01 0.13 -2 EC
    R590Q 43 0.01 2.51 1 EC
    R652G 125 0.36 1.47 -2 EU
    E1099G 98 0.04 1.58 -2 EC
BSEP
    I206V 29 1.00 0.23 3 EU
    V284A 64 0.13 0.43 -2 EC
    R299K 26 1.00 0.38 2 EU
    V444A 64 0.63 0.78 -2 EC
    R616G 125 0.01 3.16 -2 EC
    T619A 58 0.00 1.78 -1 EC
    M677V 21 0.29 0.82 1 EU
    R698H 29 0.30 0.57 0 EC
    A865V 64 0.02 1.12 0 EC
    R958Q
43
0.04
0.24
1
EU