Research Article
Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor
Table 2
Potential effect of amino acid substitution for nsSNPs in human INSR predicted by the PolyPhen algorithm.
| SNP_ID | Mutation | PolyPhen results | Score | Sensitivity | Specificity |
| rs1799816 | V1012M | Probably damaging | 0.992 | 0.7 | 0.97 | rs52836744 | G58R | Probably damaging | 1 | 0 | 1 | rs121913144 | R1027 | | | | | rs121913145 | H236R | Probably damaging | 1 | 0 | 1 | rs121913156 | R1201Q | Probably damaging | 1 | 0 | 1 | rs891087 | D261E | Benign | 0 | 1 | 0 | rs2162771 | P830L | Benign | 0 | 1 | 0 | rs13306449 | Y1361C | Probably damaging | 1 | 0 | 1 | rs35045353 | G811S | Benign | 0.441 | 0.89 | 0.9 | rs1051691 | I448T | Probably damaging | 0.996 | 0.55 | 0.98 | rs1051692 | Y171H | Benign | 0.024 | 0.95 | 0.81 | rs2229429 | D546E | Benign | 0.032 | 0.95 | 0.82 | rs7508518 | A2G | Benign | 0 | 1 | 0 | rs52800171 | W1220L | Probably damaging | 1 | 0 | 1 | rs55816055 | S353P | Possibly damaging | 0.528 | 0.88 | 0.9 | rs56395521 | L1065V | Benign | 0 | 1 | 0 | rs72549237 | V362I | Benign | 0.003 | 0.98 | 0.44 | rs76077021 | R889W | Benign | 0.111 | 0.93 | 0.86 | rs76673783 | E664G | Possibly damaging | 0.592 | 0.87 | 0.91 | rs78433961 | R796S | Benign | 0.001 | 0.99 | 0.15 | rs78827745 | M65K | Possibly damaging | 0.934 | 0.8 | 0.94 | rs79312957 | R413C | Probably damaging | 0.999 | 0.14 | 0.99 | rs113527718 | S1297G | Benign | 0.004 | 0.97 | 0.59 | rs138528064 | T320M | Benign | 0.199 | 0.92 | 0.88 | rs140762552 | T107M | Probably damaging | 1 | 0 | 1 | rs140852238 | E51K | Benign | 0.003 | 0.98 | 0.44 | rs141484557 | G262S | Possibly damaging | 0.939 | 0.8 | 0.94 | rs142391704 | A706D | Benign | 0 | 1 | 0 | rs142910337 | D75G | Benign | 0 | 1 | 0 | rs143523271 | S748L | Benign | 0 | 1 | 0 | rs143919163 | G192D | Benign | 0.005 | 0.97 | 0.74 | rs144029037 | V900I | Benign | 0.048 | 0.94 | 0.83 | rs146588336 | D946E | | | | | rs147671523 | E517G | Possibly damaging | 0.726 | 0.86 | 0.92 | rs148838377 | P755S | Benign | 0 | 1 | 0 | rs149536206 | H8598 | | | | | rs150114699 | L991I | Benign | 0.442 | 0.89 | 0.9 | rs181150880 | R410Q | Possibly damaging | 0.935 | 0.8 | 0.94 | rs182552223 | T858A | Benign | 0.007 | 0.96 | 0.75 | rs183360558 | D893N | Benign | 0 | 1 | 0 | rs185736681 | R1053C | Benign | 0.223 | 0.91 | 0.88 | rs187282966 | R889Q | Benign | 0.252 | 0.91 | 0.88 | rs199580495 | S1033F | Probably damaging | 0.968 | 0.77 | 0.95 | rs199599404 | M1319I | Benign | 0.007 | 0.96 | 0.75 | rs199659271 | C219R | Probably damaging | 1 | 0 | 1 | rs200059069 | K411Q | Possibly damaging | 0.75 | 0.85 | 0.92 | rs200110540 | V866I | Benign | 0 | 1 | 0 | rs200199169 | P271L | Benign | 0 | 1 | 0 | rs200400127 | A1340V | Benign | 0.021 | 0.95 | 0.8 | rs200921389 | G1048D | Benign | 0.009 | 0.96 | 0.77 | rs201147780 | K294R | Benign | 0.008 | 0.96 | 0.76 | rs201466857 | T858M | Probably damaging | 0.994 | 0.69 | 0.97 | rs201506342 | P1312T | Possibly damaging | 0.616 | 0.87 | 0.91 | rs201978448 | A537V | Benign | 0.143 | 0.92 | 0.86 | rs201979105 | S1221A | Probably damaging | 0.997 | 0.41 | 0.98 | rs202160383 | R1128H | Benign | 0.031 | 0.95 | 0.82 |
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remature stop codon.
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