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Results for the Protein: P25189
127721
MPZ

MYP0_HUMAN RecName: Full=Myelin protein P0; AltName: Full=Myelin peripheral protein; Short=MPP; AltName: Full=Myelin protein zero; Flags: Precursor

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 1B (CMT1B)
  CHARCOT-MARIE-TOOTH DISEASE 2I (CMT2I)
  CHARCOT-MARIE-TOOTH DISEASE 2J (CMT2J)
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT, INTERMEDIATE TYPE, D (CMTDID)
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
  DEJERINE-SOTTAS SYNDROME (DSS)
  DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
  NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING (CHN)
  NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
  ROUSSY-LEVY SYNDROME
  ROUSSY-LEVY SYNDROME (ROULS)
103
7
29
0
81
Tips:
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Default View:

IG_like - smart00410
IG - smart00409
V-set - pfam07686
IGv - smart00406
Myelin-PO_C - pfam10570


Swiss-Prot Protein: P25189
Identical to: NP_000521
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IGsmart004098.7e-1735147
IG_likesmart004108.7e-1735147
V-setpfam076863.7e-2537146
IGvsmart004066.6e-1345129
Myelin-PO_Cpfam105704.7e-49179248

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031892Diseasep.ALA221THRDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_004518Diseasep.ARG98CYSCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004519Diseasep.ARG98HISCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004545Polymorphismp.ARG244LEUN/A
Swiss-ProtVAR_004520Diseasep.ARG98PROCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_054398Diseasep.ARG227SERCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004521Diseasep.ARG98SERCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004526Diseasep.ASN116HISDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_015978Diseasep.ASN131LYSRoussy-Levy syndrome (ROULS)
Swiss-ProtVAR_004528Diseasep.ASN122SERCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_031889Diseasep.ASP109ASNCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_021609Diseasep.ASP118ASNCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_004533Diseasep.ASP128ASNDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_004537Diseasep.ASP134ASNCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004532Diseasep.ASP128GLUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004536Diseasep.ASP134GLUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004515Diseasep.ASP90GLUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029979Diseasep.ASP134GLYCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_031885Polymorphismp.ASP61GLYN/A
Swiss-ProtVAR_029972Diseasep.ASP60HISCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_054397Diseasep.ASP224TYRCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_015971Diseasep.ASP35TYRCharcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID)
Swiss-ProtVAR_015973Diseasep.ASP75VALCharcot-Marie-Tooth disease 2J (CMT2J)
Swiss-ProtVAR_004531Diseasep.CYS127TYRDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_054396Polymorphismp.GLU56LYSN/A
Swiss-ProtVAR_029975Diseasep.GLU97VALCharcot-Marie-Tooth disease 2J (CMT2J)
Swiss-ProtVAR_004543Diseasep.GLY167ALADejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_004542Diseasep.GLY163ARGCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004544Diseasep.GLY167ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029976Diseasep.GLY110ASPDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_015977Diseasep.GLY123CYSDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_015976Diseasep.GLY103GLUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004516Diseasep.GLY93GLUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004540Diseasep.GLY137SERCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004513Diseasep.HIS81ARGCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_054393Diseasep.HIS39PROCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_031888Polymorphismp.HIS81TYRN/A
Swiss-ProtVAR_015974Diseasep.ILE89ASNCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_004538Diseasep.ILE135LEUDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_015980Diseasep.ILE162METCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_004500Diseasep.ILE30METCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029973Diseasep.ILE62METCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_015972Diseasep.ILE62PHECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004524Diseasep.ILE112THRCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004525Diseasep.ILE114THRDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_004539Diseasep.ILE135THRCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004522Diseasep.ILE99THRCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029985Diseasep.LEU170ARGCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004534Diseasep.LYS130ARGDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029980Diseasep.LYS138ASNCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_021610Diseasep.LYS236GLUCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_004517Diseasep.LYS96GLUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004535Diseasep.PRO132LEUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004504Diseasep.SER54CYSCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004508Diseasep.SER63CYSDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_004512Diseasep.SER78LEUCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004503Diseasep.SER44PHECharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_029971Diseasep.SER51PHECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004509Diseasep.SER63PHECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004505Diseasep.SER54PROCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029982Diseasep.SER140THRCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_031887Diseasep.SER78TRPCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_031886Diseasep.THR65ALACharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029981Diseasep.THR139ASNCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004502Diseasep.THR34ILECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029974Diseasep.THR65ILECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_029978Diseasep.THR124LYSNeuropathy, congenital hypomyelinating or amyelinating (CHN)
Swiss-ProtVAR_004529Diseasep.THR124METCharcot-Marie-Tooth disease 2J (CMT2J)
Swiss-ProtVAR_004541Diseasep.THR143METCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004523Diseasep.TRP101CYSCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_031891Polymorphismp.TYR119CYSN/A
Swiss-ProtVAR_004511Diseasep.TYR68CYSCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004514Diseasep.TYR82CYSDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029983Diseasep.TYR145SERCharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_015979Diseasep.VAL136GLUDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_029977Polymorphismp.VAL113ILEN/A
Swiss-ProtVAR_015975Diseasep.VAL92METCharcot-Marie-Tooth disease 2I (CMT2I)
Swiss-ProtVAR_031890Polymorphismp.VAL113PHEN/A
Swiss-ProtVAR_029984Diseasep.VAL146PHECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004501Diseasep.VAL32PHECharcot-Marie-Tooth disease 1B (CMT1B)
Swiss-ProtVAR_004506Diseasep.VAL58PHECharcot-Marie-Tooth disease 1B (CMT1B)
OMIM159440.0010 Diseasep.ARG98CYSCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0011 Diseasep.ARG98HISCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0009 Diseasep.ARG98PROCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0021 Diseasep.ASN131LYSROUSSY-LEVY SYNDROME
OMIM159440.0002 Diseasep.ASP90GLUCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0028 Diseasep.ASP60HISCHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
OMIM159440.0036 Diseasep.ASP195TYRCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0018 Diseasep.ASP6TYRCHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
OMIM159440.0019 Diseasep.ASP75VALCHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
OMIM159440.0013 Diseasep.GLN186TERNEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
OMIM159440.0030 Diseasep.GLU97VALCHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
OMIM159440.0005 Diseasep.GLY167ARGDEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
OMIM159440.0022 Diseasep.GLY74GLUCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0033 Diseasep.GLY123SERCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0008 Diseasep.GLY137SERCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0014 Diseasep.HIS81ARGCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0029 Diseasep.ILE62METCHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
OMIM159440.0024 Diseasep.ILE62PHECHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
OMIM159440.0007 Diseasep.ILE135THRCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0001 Diseasep.LYS96GLUCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0034 Diseasep.PRO105THRCHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
OMIM159440.0004 Diseasep.SER63CYSDEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
OMIM159440.0023 Diseasep.SER49LEUCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
OMIM159440.0020 Diseasep.SER44PHECHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
OMIM159440.0012 Diseasep.SER63PHECHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0031 Diseasep.THR124LYSNEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
OMIM159440.0016 Diseasep.THR124METCHARCOT-MARIE-TOOTH DISEASE, TYPE 2J||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED
OMIM159440.0026 Diseasep.TYR145SERCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM159440.0035 Diseasep.VAL102VALCHARCOT-MARIE-TOOTH DISEASE, TYPE 1B



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