Results for the protein: P54803

Results for the Protein: P54803

229462868

2581

GALC

NCBI, UniProt

GALC_HUMAN RecName: Full=Galactocerebrosidase; Short=GALCERase; AltName: Full=Galactocerebroside beta-galactosidase; AltName: Full=Galactosylceramidase; AltName: Full=Galactosylceramide beta-galactosidase; Flags: Precursor

Known Diseases associated with this Protein:
LEUKODYSTROPHY, GLOBOID CELL (GLD)

45

6

0

0

51

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Default View: COG5520 - COG5520 Glyco_hydro_59 - pfam02057	Swiss-Prot Protein: P54803 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyco_hydro_59	pfam02057		17	685

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064430	Polymorphism	p.ALA21PRO	N/A
Swiss-Prot	VAR_003404	Disease	p.ALA592SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003388	Disease	p.ALA263THR	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003406	Polymorphism	p.ALA641THR	N/A
Swiss-Prot	VAR_013960	Polymorphism	p.ARG184CYS	N/A
Swiss-Prot	VAR_003399	Disease	p.ARG531CYS	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013966	Disease	p.ARG531HIS	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013958	Disease	p.ARG79HIS	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064436	Disease	p.ARG396LEU	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003394	Disease	p.ARG396TRP	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003391	Disease	p.ASN295THR	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003386	Polymorphism	p.ASP248ASN	N/A
Swiss-Prot	VAR_003400	Disease	p.ASP544ASN	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003384	Disease	p.ASP187VAL	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064432	Disease	p.GLU130LYS	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003385	Disease	p.GLY194ALA	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064434	Disease	p.GLY323ARG	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013967	Disease	p.GLY553ARG	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013956	Disease	p.GLY59ARG	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003380	Disease	p.GLY111ASP	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003390	Disease	p.GLY286ASP	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003381	Disease	p.GLY111SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003389	Disease	p.GLY284SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064431	Disease	p.GLY41SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013959	Disease	p.ILE82MET	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003405	Disease	p.ILE599SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003387	Disease	p.ILE250THR	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064435	Disease	p.ILE384THR	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003401	Polymorphism	p.ILE562THR	N/A
Swiss-Prot	VAR_013962	Polymorphism	p.ILE305VAL	N/A
Swiss-Prot	VAR_003407	Disease	p.LEU645ARG	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013968	Disease	p.LEU634SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003383	Disease	p.MET117LEU	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003397	Disease	p.PHE514SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003393	Disease	p.PRO318ALA	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064433	Disease	p.PRO318ARG	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003395	Disease	p.PRO400LEU	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003392	Disease	p.SER303PHE	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013957	Disease	p.SER68PHE	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003382	Disease	p.THR112ALA	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013969	Disease	p.THR668ARG	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013961	Disease	p.THR278ILE	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003398	Disease	p.THR529MET	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003396	Disease	p.THR468SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013965	Disease	p.TRP426GLY	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_064437	Disease	p.TYR490ASN	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013963	Disease	p.TYR314CYS	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_013964	Disease	p.TYR335CYS	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003403	Disease	p.TYR567SER	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_003402	Disease	p.VAL566GLY	Leukodystrophy, globoid cell (GLD)
Swiss-Prot	VAR_069512	Disease	p.VAL681MET	Leukodystrophy, globoid cell (GLD)

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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