Results for the protein: P25189

Results for the Protein: P25189

127721

4359

MPZ

NCBI, UniProt

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:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

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 ↕
IG_like	smart00410	8.7e-17	35	147
V-set	pfam07686	3.7e-25	37	146
IGv	smart00406	6.6e-13	45	129
Myelin-PO_C	pfam10570	4.7e-49	179	248

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_031892	Disease	p.ALA221THR	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_004518	Disease	p.ARG98CYS	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004519	Disease	p.ARG98HIS	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004545	Polymorphism	p.ARG244LEU	N/A
Swiss-Prot	VAR_004520	Disease	p.ARG98PRO	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_054398	Disease	p.ARG227SER	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004521	Disease	p.ARG98SER	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004526	Disease	p.ASN116HIS	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_015978	Disease	p.ASN131LYS	Roussy-Levy syndrome (ROULS)
Swiss-Prot	VAR_004528	Disease	p.ASN122SER	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_031889	Disease	p.ASP109ASN	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_021609	Disease	p.ASP118ASN	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_004533	Disease	p.ASP128ASN	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_004537	Disease	p.ASP134ASN	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004532	Disease	p.ASP128GLU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004536	Disease	p.ASP134GLU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004515	Disease	p.ASP90GLU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029979	Disease	p.ASP134GLY	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_031885	Polymorphism	p.ASP61GLY	N/A
Swiss-Prot	VAR_029972	Disease	p.ASP60HIS	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_054397	Disease	p.ASP224TYR	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_015971	Disease	p.ASP35TYR	Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID)
Swiss-Prot	VAR_015973	Disease	p.ASP75VAL	Charcot-Marie-Tooth disease 2J (CMT2J)
Swiss-Prot	VAR_004531	Disease	p.CYS127TYR	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_054396	Polymorphism	p.GLU56LYS	N/A
Swiss-Prot	VAR_029975	Disease	p.GLU97VAL	Charcot-Marie-Tooth disease 2J (CMT2J)
Swiss-Prot	VAR_004543	Disease	p.GLY167ALA	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_004542	Disease	p.GLY163ARG	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004544	Disease	p.GLY167ARG	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_029976	Disease	p.GLY110ASP	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_015977	Disease	p.GLY123CYS	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_015976	Disease	p.GLY103GLU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004516	Disease	p.GLY93GLU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004540	Disease	p.GLY137SER	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004513	Disease	p.HIS81ARG	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_054393	Disease	p.HIS39PRO	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_031888	Polymorphism	p.HIS81TYR	N/A
Swiss-Prot	VAR_015974	Disease	p.ILE89ASN	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_004538	Disease	p.ILE135LEU	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_015980	Disease	p.ILE162MET	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_004500	Disease	p.ILE30MET	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029973	Disease	p.ILE62MET	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_015972	Disease	p.ILE62PHE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004524	Disease	p.ILE112THR	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004525	Disease	p.ILE114THR	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_004539	Disease	p.ILE135THR	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004522	Disease	p.ILE99THR	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029985	Disease	p.LEU170ARG	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004534	Disease	p.LYS130ARG	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_029980	Disease	p.LYS138ASN	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_021610	Disease	p.LYS236GLU	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_004517	Disease	p.LYS96GLU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004535	Disease	p.PRO132LEU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004504	Disease	p.SER54CYS	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004508	Disease	p.SER63CYS	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_004512	Disease	p.SER78LEU	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004503	Disease	p.SER44PHE	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_029971	Disease	p.SER51PHE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004509	Disease	p.SER63PHE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004505	Disease	p.SER54PRO	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029982	Disease	p.SER140THR	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_031887	Disease	p.SER78TRP	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_031886	Disease	p.THR65ALA	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029981	Disease	p.THR139ASN	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004502	Disease	p.THR34ILE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029974	Disease	p.THR65ILE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_029978	Disease	p.THR124LYS	Neuropathy, congenital hypomyelinating or amyelinating (CHN)
Swiss-Prot	VAR_004529	Disease	p.THR124MET	Charcot-Marie-Tooth disease 2J (CMT2J)
Swiss-Prot	VAR_004541	Disease	p.THR143MET	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004523	Disease	p.TRP101CYS	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_031891	Polymorphism	p.TYR119CYS	N/A
Swiss-Prot	VAR_004511	Disease	p.TYR68CYS	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004514	Disease	p.TYR82CYS	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_029983	Disease	p.TYR145SER	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_015979	Disease	p.VAL136GLU	Dejerine-Sottas syndrome (DSS)
Swiss-Prot	VAR_029977	Polymorphism	p.VAL113ILE	N/A
Swiss-Prot	VAR_015975	Disease	p.VAL92MET	Charcot-Marie-Tooth disease 2I (CMT2I)
Swiss-Prot	VAR_031890	Polymorphism	p.VAL113PHE	N/A
Swiss-Prot	VAR_029984	Disease	p.VAL146PHE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004501	Disease	p.VAL32PHE	Charcot-Marie-Tooth disease 1B (CMT1B)
Swiss-Prot	VAR_004506	Disease	p.VAL58PHE	Charcot-Marie-Tooth disease 1B (CMT1B)
OMIM	159440.0010	Disease	p.ARG98CYS	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0011	Disease	p.ARG98HIS	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0009	Disease	p.ARG98PRO	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0021	Disease	p.ASN131LYS	ROUSSY-LEVY SYNDROME
OMIM	159440.0002	Disease	p.ASP90GLU	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0028	Disease	p.ASP60HIS	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
OMIM	159440.0036	Disease	p.ASP195TYR	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0018	Disease	p.ASP6TYR	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
OMIM	159440.0019	Disease	p.ASP75VAL	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
OMIM	159440.0013	Disease	p.GLN186TER	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
OMIM	159440.0030	Disease	p.GLU97VAL	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
OMIM	159440.0005	Disease	p.GLY167ARG	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
OMIM	159440.0022	Disease	p.GLY74GLU	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0033	Disease	p.GLY123SER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0008	Disease	p.GLY137SER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0014	Disease	p.HIS81ARG	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0029	Disease	p.ILE62MET	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
OMIM	159440.0024	Disease	p.ILE62PHE	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
OMIM	159440.0007	Disease	p.ILE135THR	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0001	Disease	p.LYS96GLU	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0034	Disease	p.PRO105THR	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J
OMIM	159440.0004	Disease	p.SER63CYS	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
OMIM	159440.0023	Disease	p.SER49LEU	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
OMIM	159440.0020	Disease	p.SER44PHE	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I
OMIM	159440.0012	Disease	p.SER63PHE	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0031	Disease	p.THR124LYS	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
OMIM	159440.0016	Disease	p.THR124MET	CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J\|\|CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, INCLUDED
OMIM	159440.0026	Disease	p.TYR145SER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
OMIM	159440.0035	Disease	p.VAL102VAL	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258