Results for the protein: Q68CP4

Results for the Protein: Q68CP4

124007195

138050

HGSNAT

NCBI, UniProt

HGNAT_HUMAN RecName: Full=Heparan-alpha-glucosaminide N-acetyltransferase; AltName: Full=Transmembrane protein 76

Known Diseases associated with this Protein:
MUCOPOLYSACCHARIDOSIS 3C (MPS3C)

19

4

0

0

23

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Default View: DUF1624 - pfam07786	Swiss-Prot Protein: Q68CP4 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063993	Disease	p.ALA517GLU	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063997	Polymorphism	p.ALA643THR	N/A
Swiss-Prot	VAR_030084	Disease	p.ARG372CYS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063989	Disease	p.ARG372HIS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063988	Disease	p.ASN301LYS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_030089	Disease	p.ASP590VAL	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063983	Disease	p.CYS104PHE	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_030086	Disease	p.GLU499LYS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063987	Disease	p.GLY290ARG	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063992	Disease	p.GLY514GLU	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_030085	Disease	p.GLY452SER	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063986	Disease	p.ILE280ARG	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063984	Disease	p.LEU165PRO	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063995	Polymorphism	p.LYS551GLN	N/A
Swiss-Prot	VAR_030087	Disease	p.MET510LYS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063985	Polymorphism	p.PRO265GLN	N/A
Swiss-Prot	VAR_030083	Disease	p.PRO311LEU	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_030090	Disease	p.PRO599LEU	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063996	Disease	p.SER567CYS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_030088	Disease	p.SER569LEU	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063994	Disease	p.SER546PHE	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063990	Disease	p.TRP431CYS	Mucopolysaccharidosis 3C (MPS3C)
Swiss-Prot	VAR_063991	Polymorphism	p.VAL509LEU	N/A

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.

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