Research Article
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1A
Table 1
nsSNPs of PMP22 gene analyzed by three computational methods: PolyPhen 2.0, SIFT, and PMUT.
| SNP ID | | SIFT | | | PolyPhen2 | | PMUT | Mutation | Score | Prediction | PSIC | Prediction | Score | Prediction |
| rs28936682 | R157W | 0.00 | Deleterious | 1.000 | Probably damaging | 0.9963 | Pathological | rs104894617 | L16P | 0.03 | Deleterious | 0.928 | Possibly damaging | 0.7069 | Pathological | rs104894618 | S79C | 0.02 | Deleterious | 0.992 | Probably damaging | 0.5895 | Pathological | rs104894619 | T118M | 0.00 | Deleterious | 1.000 | Probably damaging | 0.6326 | Pathological | rs104894620 | M69K | 0.01 | Deleterious | 0.994 | Probably damaging | 0.8504 | Pathological | rs104894621 | S72L | 0.00 | Deleterious | 0.999 | Probably damaging | 0.4180 | Neutral | rs104894622 | H12Q | 0.01 | Deleterious | 0.546 | Possibly damaging | 0.5511 | Pathological | rs104894623 | A67T | 0.00 | Deleterious | 1.000 | Probably damaging | 0.1614 | Neutral | rs104894624 | G150C | 0.02 | Deleterious | 1.000 | Probably damaging | 0.9706 | Pathological | rs104894625 | S22F | 0.00 | Deleterious | 0.960 | Probably damaging | 0.8126 | Pathological | rs104894626 | W28R | 0.00 | Deleterious | 1.000 | Probably damaging | 0.9771 | Pathological | rs104894627 | D37V | 0.01 | Deleterious | 1.000 | Probably damaging | 0.6415 | Pathological | rs11545341 | Q86K | 0.12 | Tolerated | 0.997 | Probably damaging | 0.5282 | Pathological | rs112232836 | K92R | 0.27 | Tolerated | 0.998 | Probably damaging | 0.0661 | Neutral | rs112651887 | T44A | 0.51 | Tolerated | 0.001 | Benign | 0.0557 | Neutral | rs138515303 | I9V | 0.35 | Tolerated | 0.041 | Benign | 0.0326 | Neutral | rs140763467 | G133S | 0.06 | Tolerated | 1.000 | Probably damaging | 0.8228 | Pathological | rs141094419 | A135T | 0.09 | Tolerated | 0.001 | Benign | 0.6424 | Pathological | rs147114400 | L90V | 0.08 | Tolerated | 0.476 | Possibly damaging | 0.2900 | Neutral | rs148822354 | A115V | 1.00 | Tolerated | 0.005 | Benign | 0.4346 | Neutral | rs189205303 | T89N | 0.11 | Tolerated | 0.997 | Probably damaging | 0.4841 | Neutral | rs201255121 | P144T | 0.31 | Tolerated | 1.000 | Probably damaging | 0.5560 | Pathological | rs368223794 | A106T | 0.30 | Tolerated | 0.865 | Possibly damaging | 0.2658 | Neutral | rs368908933 | H51R | 0.33 | Tolerated | 0.000 | Benign | 0.1470 | Neutral | rs373322590 | N32S | 0.47 | Tolerated | 0.011 | Benign | 0.1235 | Neutral | rs375449671 | Y136S | 0.00 | Deleterious | 0.636 | Possibly damaging | 0.7302 | Pathological |
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