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Results for the Protein: Q01453
266803

PMP22_HUMAN RecName: Full=Peripheral myelin protein 22; Short=PMP-22; AltName: Full=Growth arrest-specific protein 3; Short=GAS-3

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 1A (CMT1A)
  CHARCOT-MARIE-TOOTH DISEASE 1E (CMT1E)
  DEJERINE-SOTTAS SYNDROME (DSS)
  HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)
33
2
0
0
35
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Swiss-Prot Protein: Q01453
Identical to: NP_000295, NP_696996, NP_696997
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009661Diseasep.ALA67PROCharcot-Marie-Tooth disease 1E (CMT1E)
Swiss-ProtVAR_029965Diseasep.ALA67THRHereditary neuropathy with liability to pressure palsies (HNPP)
Swiss-ProtVAR_009663Polymorphismp.ARG157GLYN/A
Swiss-ProtVAR_009664Diseasep.ARG157TRPDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_009660Diseasep.ASP37VALCharcot-Marie-Tooth disease 1A (CMT1A)
Swiss-ProtVAR_029968Diseasep.CYS109ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006372Diseasep.GLY100ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_009662Diseasep.GLY93ARGCharcot-Marie-Tooth disease 1A (CMT1A)
Swiss-ProtVAR_006379Diseasep.GLY150ASPDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006378Diseasep.GLY150CYSDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006371Diseasep.GLY100GLUDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006374Diseasep.GLY107VALCharcot-Marie-Tooth disease 1A (CMT1A)
Swiss-ProtVAR_006359Diseasep.HIS12GLNDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006376Polymorphismp.ILE137VALN/A
Swiss-ProtVAR_006373Diseasep.LEU105ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006377Diseasep.LEU147ARGCharcot-Marie-Tooth disease 1A (CMT1A)
Swiss-ProtVAR_029967Diseasep.LEU80ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006360Diseasep.LEU16PRODejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006361Diseasep.LEU19PRODejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029966Diseasep.LEU71PRODejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006369Diseasep.LEU80PRODejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006362Diseasep.MET69LYSDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029970Diseasep.SER149ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006367Diseasep.SER79CYSCharcot-Marie-Tooth disease 1A (CMT1A)
Swiss-ProtVAR_006366Diseasep.SER76ILEDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006363Diseasep.SER72LEUDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029960Diseasep.SER22PHEHereditary neuropathy with liability to pressure palsies (HNPP)
Swiss-ProtVAR_006364Diseasep.SER72PRODejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006368Diseasep.SER79PRODejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_006365Diseasep.SER72TRPDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029961Diseasep.THR23ARGCharcot-Marie-Tooth disease 1E (CMT1E)
Swiss-ProtVAR_006375Diseasep.THR118METCharcot-Marie-Tooth disease 1A (CMT1A)
Swiss-ProtVAR_029963Diseasep.TRP28ARGCharcot-Marie-Tooth disease 1E (CMT1E)
Swiss-ProtVAR_009659Diseasep.VAL30METHereditary neuropathy with liability to pressure palsies (HNPP)
Swiss-ProtVAR_029964Diseasep.VAL65PHECharcot-Marie-Tooth disease 1A (CMT1A)



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