Results for the protein: P60201

Results for the Protein: P60201

41393531

5354

PLP1

NCBI, UniProt

MYPR_HUMAN RecName: Full=Myelin proteolipid protein; Short=PLP; AltName: Full=Lipophilin

Known Diseases associated with this Protein:
  LEUKODYSTROPHY, HYPOMYELINATING, 1 (HLD1)
  PELIZAEUS-MERZBACHER DISEASE
  PELIZAEUS-MERZBACHER DISEASE, ATYPICAL
  PELIZAEUS-MERZBACHER DISEASE, CONNATAL
  PELIZAEUS-MERZBACHER DISEASE, MILD
  SPASTIC PARAPLEGIA 2
  SPASTIC PARAPLEGIA 2, X-LINKED (SPG2)

88

4

20

0

72

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: Myelin_PLP - pfam01275 PLP - smart00002	Swiss-Prot Protein: P60201 Identical to: NP_001122306, NP_000524 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PLP	smart00002	7.7e-44	179	238

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046917	Disease	p.ALA243GLU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015051	Disease	p.ALA248GLU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015049	Disease	p.ALA242PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004565	Disease	p.ALA249PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046909	Disease	p.ALA76PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046920	Disease	p.ALA247THR	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015018	Disease	p.ALA39THR	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046918	Disease	p.ALA243VAL	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015037	Disease	p.ARG205GLY	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046910	Disease	p.ARG137TRP	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_015036	Disease	p.ASP203ASN	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015034	Disease	p.ASP203GLU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015035	Disease	p.ASP203GLY	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004557	Disease	p.ASP203HIS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_007956	Disease	p.ASP203VAL	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015028	Disease	p.CYS169ARG	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046907	Disease	p.CYS35ARG	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015044	Disease	p.CYS220TYR	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015047	Disease	p.CYS228TYR	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046906	Disease	p.CYS33TYR	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015017	Disease	p.CYS35TYR	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015048	Disease	p.GLN234PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046919	Disease	p.GLY246ALA	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004548	Disease	p.GLY74ARG	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004561	Disease	p.GLY221CYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015050	Disease	p.GLY246GLU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004559	Disease	p.GLY217SER	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015024	Disease	p.HIS130TYR	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_004551	Disease	p.HIS140TYR	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_015025	Polymorphism	p.HIS148TYR	N/A
Swiss-Prot	VAR_004556	Disease	p.ILE187THR	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_015020	Disease	p.LEU46ARG	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015040	Disease	p.LEU210HIS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015045	Polymorphism	p.LEU224ILE	N/A
Swiss-Prot	VAR_004562	Disease	p.LEU224PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046915	Disease	p.LEU225PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046916	Disease	p.LEU239PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015014	Disease	p.LEU31PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015019	Polymorphism	p.LEU46PRO	N/A
Swiss-Prot	VAR_015026	Disease	p.LYS151ASN	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015015	Disease	p.PHE32LEU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004563	Disease	p.PHE237SER	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_015021	Disease	p.PHE51SER	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015016	Disease	p.PHE32VAL	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015043	Disease	p.PRO216ALA	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004546	Disease	p.PRO15LEU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015041	Disease	p.PRO211LEU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046914	Disease	p.PRO216LEU	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_046913	Disease	p.PRO173SER	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004558	Disease	p.PRO216SER	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015029	Disease	p.SER170PHE	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_015052	Disease	p.SER253PHE	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046912	Disease	p.SER170PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015046	Disease	p.SER226PRO	Spastic paraplegia 2, X-linked (SPG2)
Swiss-Prot	VAR_015033	Disease	p.THR183ASN	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004552	Disease	p.THR156ILE	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004547	Disease	p.THR43ILE	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015023	Disease	p.THR116LYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004555	Disease	p.THR182PRO	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004553	Disease	p.TRP163ARG	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015042	Disease	p.TRP212ARG	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015032	Disease	p.TRP181CYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015031	Disease	p.TYR175CYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015038	Disease	p.TYR207CYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046908	Disease	p.TYR50CYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015022	Disease	p.TYR60CYS	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015030	Disease	p.VAL172ALA	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015039	Disease	p.VAL209ASP	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_046911	Disease	p.VAL162GLU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_004554	Disease	p.VAL166GLU	Leukodystrophy, hypomyelinating, 1 (HLD1)
Swiss-Prot	VAR_015027	Polymorphism	p.VAL166GLY	N/A
Swiss-Prot	VAR_004560	Disease	p.VAL219PHE	Leukodystrophy, hypomyelinating, 1 (HLD1)
OMIM	300401.0019	Disease	p.ALA242VAL	PELIZAEUS-MERZBACHER DISEASE, CONNATAL
OMIM	300401.0026	Disease	p.ARG137TRP	SPASTIC PARAPLEGIA 2
OMIM	300401.0009	Disease	p.ASP202HIS	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0027	Disease	p.ASP57TYR	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0010	Disease	p.GLY73ARG	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0011	Disease	p.GLY220CYS	PELIZAEUS-MERZBACHER DISEASE, CONNATAL
OMIM	300401.0012	Disease	p.HIS139TYR	SPASTIC PARAPLEGIA 2
OMIM	300401.0013	Disease	p.ILE186THR	SPASTIC PARAPLEGIA 2
OMIM	300401.0008	Disease	p.LEU223PRO	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0015	Disease	p.MET1ILE	PELIZAEUS-MERZBACHER DISEASE, MILD
OMIM	300401.0017	Disease	p.PHE236SER	SPASTIC PARAPLEGIA 2
OMIM	300401.0003	Disease	p.PRO14LEU	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0001	Disease	p.PRO215SER	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0020	Disease	p.SER169PHE	SPASTIC PARAPLEGIA 2
OMIM	300401.0004	Disease	p.THR155ILE	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0014	Disease	p.THR42ILE	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0007	Disease	p.THR181PRO	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0002	Disease	p.TRP162ARG	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0018	Disease	p.TRP144TER	PELIZAEUS-MERZBACHER DISEASE, ATYPICAL
OMIM	300401.0005	Disease	p.VAL218PHE	PELIZAEUS-MERZBACHER DISEASE

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