Table 2.
Gene | Amino acid change | DV92 allele | G3116 allele | PROVEANa | PolyPhen-2b | BLOSUM62c |
---|---|---|---|---|---|---|
ELF3 | V364L | L | V | −0.688 | 0.574 | 1 |
G681R | R | G | −2.781 | 0.116 | −2 | |
G700D | G | D | 1.046 | 0.999 | −1 | |
G718A | G | A | 0.613 | 0.114 | 0 | |
GRIK1-like | D77E | D | E | 0.389 | 0.012 | 2 |
A228S | A | S | 0.298 | 0.048 | 1 | |
D351N | D | N | −0.039 | 0.016 | 1 | |
PWWP1 | S251W | S | W | −2.023 | 0.992 | −3 |
T294M | M | T | 0.653 | 0.050 | −1 | |
S327I | S | I | −1.703 | 0.827 | −2 | |
G542C | G | C | −0.540 | 0.999 | −3 | |
V701A | A | V | 0.387 | 0.455 | 0 |
aPROVEAN scores were calculated at provean.jcvi.org. Scores <−2.5 are predicted to have a strong effect on protein function
bPolylPhen-2 scores were calculated using genetics.bwh.harvard.edu/pph2/. Values close to 0 suggest limited effects on protein function, and values closer to 1 suggest more significant effects on protein structure and function
cBLOSUM62 scores were obtained from BLOSUM62 substitution matrix (Henikoff and Henikoff 1992). The more negative the BLOSUM62 scores are, the higher is the probability of that amino acid change to disrupt protein structure or function