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 IDSIFTPolyPhen2PMUT
MutationScorePredictionPSICPredictionScorePrediction

rs28936682R157W0.00Deleterious1.000Probably damaging0.9963Pathological
rs104894617L16P0.03Deleterious0.928Possibly damaging0.7069Pathological
rs104894618S79C0.02Deleterious0.992Probably damaging0.5895Pathological
rs104894619T118M0.00Deleterious1.000Probably damaging0.6326Pathological
rs104894620M69K0.01Deleterious0.994Probably damaging0.8504Pathological
rs104894621S72L0.00Deleterious0.999Probably damaging0.4180Neutral
rs104894622H12Q0.01Deleterious0.546Possibly damaging0.5511Pathological
rs104894623A67T0.00Deleterious1.000Probably damaging0.1614Neutral
rs104894624G150C0.02Deleterious1.000Probably damaging0.9706Pathological
rs104894625S22F0.00Deleterious0.960Probably damaging0.8126Pathological
rs104894626W28R0.00Deleterious1.000Probably damaging0.9771Pathological
rs104894627D37V0.01Deleterious1.000Probably damaging0.6415Pathological
rs11545341Q86K0.12Tolerated0.997Probably damaging0.5282Pathological
rs112232836K92R0.27Tolerated0.998Probably damaging0.0661Neutral
rs112651887T44A0.51Tolerated0.001Benign0.0557Neutral
rs138515303I9V0.35Tolerated0.041Benign0.0326Neutral
rs140763467G133S0.06Tolerated1.000Probably damaging0.8228Pathological
rs141094419A135T0.09Tolerated0.001Benign0.6424Pathological
rs147114400L90V0.08Tolerated0.476Possibly damaging0.2900Neutral
rs148822354A115V1.00Tolerated0.005Benign0.4346Neutral
rs189205303T89N0.11Tolerated0.997Probably damaging0.4841Neutral
rs201255121P144T0.31Tolerated1.000Probably damaging0.5560Pathological
rs368223794A106T0.30Tolerated0.865Possibly damaging0.2658Neutral
rs368908933H51R0.33Tolerated0.000Benign0.1470Neutral
rs373322590N32S0.47Tolerated0.011Benign0.1235Neutral
rs375449671Y136S0.00Deleterious0.636Possibly damaging0.7302Pathological