TABLE 4.
SNP genome coordinate | Protein affected | Line(s) in which SNP is present | Alleles (ref/SNP) | Amino acid substitution | SIFT score | PROVEAN score | SNAP2 score | Comments on SNP location |
---|---|---|---|---|---|---|---|---|
Chr1:106,613,646 | IFNAR1 | 61, 72, 0 | G/A | A4T | 0 b | 0.012 | −84 | |
Chr1:106,613,656 | IFNAR1 | 72 | C/T | A7V | 0 b | 0.647 | −25 | |
Chr1:106,621,892 | IFNAR1 | 15I, 61, 72, C, N, P2a a , 0, Wl | T/G | Y217D | 0.29 | 0.363 | 32 | Occurs in FN3 domain |
Chr1:106,621,899 | IFNAR1 | N | A/G | E219G | 0.44 | −0.719 | 18 | Occurs in FN3 domain |
Chr1:106,623,894 | IFNAR1 | 15I, 61, 72, C, N, 0, Wl | G/A | S324N | 1 | 1.099 | −81 | Occurs in tissue factor domain |
Chr1:106,625,990 | IFNAR1 | 0 a | C/T | A404V | 0.76 | 0.729 | −87 | Occurs in interferon binding domain |
Chr1:106,587,598 | IFNAR2 | C | C/T | P45S | 0 b | 0.759 | −78 | Occurs in tissue factor domain |
Chr1:106,588,380 | IFNAR2 | 15I, 72, C, 0 a , Wl | C/T | H137Y | 1 | 0.037 | −65 | |
Chr1:106,588,700 | IFNAR2 | 15I, 72, P2a a , 0 a , Wl | A/G | N188D | 0.7 | −0.238 | −89 | Occurs in interferon binding domain |
Chr1:106,589,401 | IFNAR2 | 15I, P2a a , 0, Wl | T/C | I214T | 0.11 | −0.435 | −68 | Occurs in interferon binding domain |
Chr1:106,589,970 | IFNAR2 | 15I, C, P2a a , 0 a , Wl | G/T | G264V | 0.15 | 0.584 | −1 | Occurs in transmembrane region |
Chr1:106,590,778 | IFNAR2 | 15I, C, P2a a , 0, Wl | A/G | I296V | 1 | −0.005 | −75 | |
Chr1:106,591,040 | IFNAR2 | 15I, C, P2a a , 0 a , Wl | G/A | G383D | 0.69 | 1.243 | −29 | |
Chr1:106,591,349 | IFNAR2 | 15I, C, P2a a , 0, Wl | C/T | T486M | aa0 | −0.991 | −62 | |
Chr3:54,913,306 | IFNGR1 | 15I, 61, 72, C, 0, Wl | T/C | V395A | 0.27 | −0.16 | −16 | |
Chr3:54,913,327 | IFNGR1 | 15I, 61, 72, C, 0, Wl | G/A | R402Q | 0.48 | 1.272 | −71 | |
Chr1:106,647,185 | IFNGR2 | 61 | T/C | C44R | 0.62 | 3.391 | −60 | Occurs in tissue factor domain |
Chr23:5,823,279 | IFNLR1 | N a | T/C | E151G | 0 b | −1.341 | −19 | Occurs in interferon binding domain |
Chr23:5,822,624 | IFNLR1 | C a | A/G | S199P | 0.23 | −1.046 | 14 | Occurs in interferon binding domain |
Chr23:5,822,588 | IFNLR1 | 72 a , C a , 0 a | A/G | S211P | 0.06 | −4.218 | 41 | Occurs in interferon binding domain |
Chr1:106,602,130 | IL10RB | 61 | T/G | S248A | 1 | 0.375 | −66 | |
Chr1:106,603,837 | IL10RB | 61, 72, N, P2a a , 0 a | A/T | Q293H | 0.04 | −1.17 | −95 | |
Chr1:106,603,910 | IL10RB | 72 | A/G | R318G | 0.38 | −0.716 | 9 | |
Chr1:106,603,911 | IL10RB | C, P2a a | G/A | R318K | 1 | −0.092 | −78 | |
ChrZ:7,372,479 | IFNβ | N a | T/C | S151P | 0.36 | −1.728 | 52 | Occurs in IFNα/β/δ domain |
Chr7:7,923,855 | STAT1 | 15I a , 72 a , Wl a | A/C | V341G | 0.03 b | −4.766 | 39 | Occurs in STAT binding domain |
Chr8:28,566,979 | JAK1 | N a , P2a a , 0 | A/G | V332A | 0.67 | −0.305 | −67 | |
Chr8:28,564,446 | JAK1 | C a , Wl a | A/C | Y500D | 0.04 | −3.757 | 61 | Occurs in SH2 domain |
Chr30:182,787 | TYK2 | 72 a , Wl a | A/C | H215P | 0.2 | −2.732 | 63 | Occurs in B41 domain |
Chr30:183,686 | TYK2 | 15I a , 61, 72, N, P2a, 0, Wl | G/A | R299Q | 0.44 | −0.551 | −17 | Occurs in B41 domain |
Chr30:186,858 | TYK2 | 72 a , C a , 0 a | T/C | V550A | 0.01 | −2.65 | −26 | Occurs in SH2 domain |
Chr30:190,505 | TYK2 | 61, 72, P2a, 0 a | G/A | S875N | 0.45 | 0.351 | −96 | Occurs in TyrKc domain |
Chr30:190,528 | TYK2 | C a | T/C | S883P | 0.25 | −3.994 | 12 | Occurs in TyrKc domain |
Chr30:190,801 | TYK2 | 61 a | A/C | D908A | 0.34 | −1.029 | −53 | |
Chr20:10,064,956 | IRF9 | P2a a | T/C | H186R | 0.51 | −1.24 | −38 | |
Chr20:10,064,260 | IRF9 | 61 a , C a , 0 a | T/G | Y355S | 0.15 | −4.102 | 63 | Occurs in IRF‐3 domain |
Scores in bold indicate a predicted significant effect.
SNP occurs in only one allele and is therefore heterozygous.
SIFT scores with low confidence in the value due to too few comparable sequences for the software to make a reliable prediction.