Results for the protein: NP

Results for the Protein: NP_955772

41349501

5354

PLP1

NCBI

myelin proteolipid protein isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  PELIZAEUS-MERZBACHER DISEASE
  PELIZAEUS-MERZBACHER DISEASE, CONNATAL
  PELIZAEUS-MERZBACHER DISEASE, MILD
  SPASTIC PARAPLEGIA 2

17

0

17

0

0

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	RefSeq Protein: NP_955772 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PLP	smart00002	7.7e-44	144	203

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	300401.0019	Disease	p.ALA207VAL	PELIZAEUS-MERZBACHER DISEASE, CONNATAL
OMIM	300401.0009	Disease	p.ASP167HIS	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.GLY185CYS	PELIZAEUS-MERZBACHER DISEASE, CONNATAL
OMIM	300401.0013	Disease	p.ILE151THR	SPASTIC PARAPLEGIA 2
OMIM	300401.0008	Disease	p.LEU188PRO	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0015	Disease	p.MET1ILE	PELIZAEUS-MERZBACHER DISEASE, MILD
OMIM	300401.0017	Disease	p.PHE201SER	SPASTIC PARAPLEGIA 2
OMIM	300401.0003	Disease	p.PRO14LEU	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0001	Disease	p.PRO180SER	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0020	Disease	p.SER134PHE	SPASTIC PARAPLEGIA 2
OMIM	300401.0004	Disease	p.THR120ILE	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0014	Disease	p.THR42ILE	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0007	Disease	p.THR146PRO	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0002	Disease	p.TRP127ARG	PELIZAEUS-MERZBACHER DISEASE
OMIM	300401.0005	Disease	p.VAL183PHE	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