Results for the protein: Q3T906

Results for the Protein: Q3T906

90185244

79158

GNPTAB

NCBI, UniProt

GNPTA_HUMAN RecName: Full=N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; AltName: Full=GlcNAc-1-phosphotransferase subunits alpha/beta; AltName: Full=Stealth protein GNPTAB; AltName: Full=UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; Contains: RecName: Full=N-acetylglucosamine-1-phosphotransferase subunit alpha; Contains: RecName: Full=N-acetylglucosamine-1-phosphotransferase subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  MUCOLIPIDOSIS II ALPHA/BETA
  MUCOLIPIDOSIS II ALPHA/BETA, INCLUDED
  MUCOLIPIDOSIS III ALPHA/BETA
  MUCOLIPIDOSIS III ALPHA/BETA, INCLUDED
  MUCOLIPIDOSIS TYPE II (MLII)
  MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A (MLIIIA)

19

4

7

2

14

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: NL - smart00004 DMAP_binding - pfam06464	Swiss-Prot Protein: Q3T906 Identical to: NP_077288 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NL	smart00004	0.00084	498	535
DMAP_binding	pfam06464	8.5e-42	699	814

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025417	Polymorphism	p.ALA662GLY	N/A
Swiss-Prot	VAR_062815	Disease	p.ASN1153SER	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_025416	Disease	p.ASP407ALA	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_053545	Polymorphism	p.ASP190VAL	N/A
Swiss-Prot	VAR_062811	Disease	p.CYS461GLY	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_062810	Disease	p.CYS442TYR	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_062812	Disease	p.GLN926PRO	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_062813	Disease	p.HIS956TYR	Mucolipidosis type III complementation group A (MLIIIA)
dbSNP	rs7958709	Polymorphism	p.ILE348LEU	N/A
Swiss-Prot	VAR_062809	Disease	p.ILE403THR	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_062814	Disease	p.LEU1001PRO	Mucolipidosis type II (MLII)
Swiss-Prot	VAR_027509	Disease	p.LYS4GLN	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_027511	Disease	p.LYS1236MET	Mucolipidosis type II (MLII)
Swiss-Prot	VAR_062807	Disease	p.PHE374LEU	Mucolipidosis type III complementation group A (MLIIIA)
Swiss-Prot	VAR_062808	Disease	p.SER399PHE	Mucolipidosis type III complementation group A (MLIIIA)
dbSNP	rs76889468	Polymorphism	p.THR644ILE	N/A
OMIM	607840.0004	Disease	p.ARG1189TER	MUCOLIPIDOSIS II ALPHA/BETA\|\|MUCOLIPIDOSIS III ALPHA/BETA, INCLUDED
OMIM	607840.0002	Disease	p.ASP407GLY	MUCOLIPIDOSIS III ALPHA/BETA
OMIM	607840.0003	Disease	p.GLN104TER	MUCOLIPIDOSIS II ALPHA/BETA
OMIM	607840.0014	Disease	p.LYS4GLN	MUCOLIPIDOSIS III ALPHA/BETA
OMIM	607840.0015	Disease	p.PHE374LEU	MUCOLIPIDOSIS III ALPHA/BETA\|\|MUCOLIPIDOSIS II ALPHA/BETA, INCLUDED
OMIM	607840.0005	Disease	p.SER1058TER	MUCOLIPIDOSIS II ALPHA/BETA
OMIM	607840.0007	Disease	p.TRP894TER	MUCOLIPIDOSIS II ALPHA/BETA

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