Results for the protein: P04062

Results for the Protein: P04062

55584151

2629

GBA

NCBI, UniProt

GLCM_HUMAN RecName: Full=Glucosylceramidase; AltName: Full=Acid beta-glucosidase; AltName: Full=Alglucerase; AltName: Full=Beta-glucocerebrosidase; Short=Beta-GC; AltName: Full=D-glucosyl-N-acylsphingosine glucohydrolase; AltName: Full=Imiglucerase; Flags: Precursor

Known Diseases associated with this Protein:
  DEMENTIA, LEWY BODY, SUSCEPTIBILIT
  GAUCHER DISEASE (GD)
  GAUCHER DISEASE 1 (GD1)
  GAUCHER DISEASE 2 (GD2)
  GAUCHER DISEASE 3 (GD3)
  GAUCHER DISEASE, PERINATAL LETHAL
  GAUCHER DISEASE, PERINATAL LETHAL, INCLUDED
  GAUCHER DISEASE, TYPE I
  GAUCHER DISEASE, TYPE I, INCLUDED
  GAUCHER DISEASE, TYPE I, INCLUDED;;
  GAUCHER DISEASE, TYPE II
  GAUCHER DISEASE, TYPE II, INCLUDED
  GAUCHER DISEASE, TYPE II, INCLUDED;;
  GAUCHER DISEASE, TYPE III
  GAUCHER DISEASE, TYPE III, INCLUDED
  GAUCHER DISEASE, TYPE III, INCLUDED;;
  PARKINSON DISEASE,
  PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO, INCLUDED;;
  PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO

188

11

41

3

155

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Glyco_hydro_30 - pfam02055 COG5520 - COG5520	Swiss-Prot Protein: P04062 Identical to: NP_001005742, NP_000148, NP_001005741 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5520	COG5520	2.5e-21	69	536

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003270	Disease	p.ALA215ASP	Gaucher disease (GD)
Swiss-Prot	VAR_003293	Disease	p.ALA357ASP	Gaucher disease (GD)
Swiss-Prot	VAR_032401	Disease	p.ALA175GLU	Gaucher disease (GD)
Swiss-Prot	VAR_009038	Disease	p.ALA229GLU	Gaucher disease (GD)
Swiss-Prot	VAR_003322	Disease	p.ALA485PRO	Gaucher disease (GD)
Swiss-Prot	VAR_003323	Disease	p.ALA495PRO	Gaucher disease (GD)
Swiss-Prot	VAR_032397	Disease	p.ALA129THR	Gaucher disease (GD)
Swiss-Prot	VAR_032406	Disease	p.ALA229THR	Gaucher disease (GD)
Swiss-Prot	VAR_009045	Disease	p.ALA380THR	Gaucher disease (GD)
Swiss-Prot	VAR_003289	Disease	p.ALA348VAL	Gaucher disease (GD)
Swiss-Prot	VAR_009035	Disease	p.ARG170CYS	Gaucher disease 2 (GD2)
Swiss-Prot	VAR_032404	Disease	p.ARG209CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003286	Disease	p.ARG324CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003324	Disease	p.ARG502CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003327	Disease	p.ARG535CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003263	Disease	p.ARG159GLN	Gaucher disease (GD)
Swiss-Prot	VAR_003284	Disease	p.ARG296GLN	Gaucher disease (GD)
Swiss-Prot	VAR_003299	Disease	p.ARG398GLN	Gaucher disease (GD)
Swiss-Prot	VAR_032197	Disease	p.ARG87GLN	Gaucher disease (GD)
Swiss-Prot	VAR_010066	Disease	p.ARG392GLY	Gaucher disease (GD)
Swiss-Prot	VAR_009042	Disease	p.ARG324HIS	Gaucher disease (GD)
Swiss-Prot	VAR_032411	Polymorphism	p.ARG368HIS	N/A
Swiss-Prot	VAR_003328	Disease	p.ARG535HIS	Gaucher disease (GD)
Swiss-Prot	VAR_009036	Disease	p.ARG170LEU	Gaucher disease (GD)
Swiss-Prot	VAR_003269	Disease	p.ARG209PRO	Gaucher disease (GD)
Swiss-Prot	VAR_032217	Disease	p.ARG502PRO	Gaucher disease (GD)
Swiss-Prot	VAR_003264	Disease	p.ARG159TRP	Gaucher disease (GD)
Swiss-Prot	VAR_032208	Disease	p.ARG392TRP	Gaucher disease (GD)
Swiss-Prot	VAR_003259	Disease	p.ARG87TRP	Gaucher disease (GD)
Swiss-Prot	VAR_032398	Disease	p.ASN156ASP	Gaucher disease (GD)
Swiss-Prot	VAR_003309	Disease	p.ASN431ILE	Gaucher disease (GD)
Swiss-Prot	VAR_003275	Disease	p.ASN227LYS	Gaucher disease (GD)
Swiss-Prot	VAR_032212	Disease	p.ASN421LYS	Gaucher disease (GD)
Swiss-Prot	VAR_009049	Disease	p.ASN501LYS	Gaucher disease (GD)
dbSNP	rs364897	Polymorphism	p.ASN227SER	N/A
Swiss-Prot	VAR_003274	Disease	p.ASN227SER	Gaucher disease (GD)
Swiss-Prot	VAR_003302	Disease	p.ASN409SER	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003311	Disease	p.ASN435THR	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003305	Disease	p.ASP419ALA	Gaucher disease (GD)
Swiss-Prot	VAR_003306	Disease	p.ASP419ASN	Gaucher disease (GD)
Swiss-Prot	VAR_003312	Disease	p.ASP438ASN	Gaucher disease (GD)
Swiss-Prot	VAR_063067	Polymorphism	p.ASP482ASN	N/A
Swiss-Prot	VAR_032395	Disease	p.ASP63ASN	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003267	Disease	p.ASP179HIS	Gaucher disease (GD)
Swiss-Prot	VAR_003292	Disease	p.ASP354HIS	Gaucher disease (GD)
Swiss-Prot	VAR_032211	Disease	p.ASP419HIS	Gaucher disease (GD)
Swiss-Prot	VAR_003313	Disease	p.ASP448HIS	Gaucher disease (GD)
Swiss-Prot	VAR_032413	Disease	p.ASP438TYR	Gaucher disease (GD)
Swiss-Prot	VAR_009050	Disease	p.ASP513TYR	Gaucher disease 2 (GD2)
Swiss-Prot	VAR_032200	Disease	p.ASP166VAL	Gaucher disease (GD)
Swiss-Prot	VAR_003314	Disease	p.ASP448VAL	Gaucher disease (GD)
Swiss-Prot	VAR_003298	Disease	p.CYS381GLY	Gaucher disease (GD)
Swiss-Prot	VAR_032394	Disease	p.CYS55SER	Gaucher disease (GD)
Swiss-Prot	VAR_003297	Disease	p.GLU365LYS	Gaucher disease (GD)
Swiss-Prot	VAR_032207	Disease	p.GLU388LYS	Gaucher disease (GD)
Swiss-Prot	VAR_009033	Disease	p.GLU80LYS	Gaucher disease 2 (GD2)
Swiss-Prot	VAR_003279	Disease	p.GLY241ARG	Gaucher disease (GD)
Swiss-Prot	VAR_003296	Disease	p.GLY364ARG	Gaucher disease (GD)
Swiss-Prot	VAR_032213	Disease	p.GLY429ARG	Gaucher disease (GD)
Swiss-Prot	VAR_010063	Disease	p.GLY304ASP	Gaucher disease (GD)
Swiss-Prot	VAR_032415	Disease	p.GLY460ASP	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003261	Disease	p.GLY152GLU	Gaucher disease (GD)
Swiss-Prot	VAR_032204	Disease	p.GLY232GLU	Gaucher disease (GD)
Swiss-Prot	VAR_003277	Disease	p.GLY234GLU	Gaucher disease (GD)
Swiss-Prot	VAR_010061	Disease	p.GLY241GLU	Gaucher disease (GD)
Swiss-Prot	VAR_003307	Disease	p.GLY428GLU	Gaucher disease (GD)
Swiss-Prot	VAR_003258	Disease	p.GLY85GLU	Gaucher disease (GD)
Swiss-Prot	VAR_003303	Disease	p.GLY416SER	Gaucher disease (GD)
Swiss-Prot	VAR_003326	Disease	p.GLY517SER	Gaucher disease (GD)
Swiss-Prot	VAR_009039	Disease	p.GLY234TRP	Gaucher disease (GD)
Swiss-Prot	VAR_010060	Disease	p.GLY228VAL	Gaucher disease (GD)
Swiss-Prot	VAR_009044	Polymorphism	p.HIS350ARG	N/A
Swiss-Prot	VAR_032416	Disease	p.HIS490ARG	Gaucher disease (GD)
Swiss-Prot	VAR_009040	Disease	p.HIS294GLN	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_032403	Disease	p.HIS201PRO	Gaucher disease (GD)
Swiss-Prot	VAR_032201	Disease	p.ILE200ASN	Gaucher disease (GD)
Swiss-Prot	VAR_032414	Disease	p.ILE441PHE	Gaucher disease (GD)
Swiss-Prot	VAR_032399	Disease	p.ILE158SER	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_010059	Disease	p.ILE200SER	Gaucher disease (GD)
Swiss-Prot	VAR_003262	Disease	p.ILE158THR	Gaucher disease (GD)
Swiss-Prot	VAR_010072	Disease	p.ILE441THR	Gaucher disease (GD)
Swiss-Prot	VAR_003320	Disease	p.LEU483ARG	Gaucher disease (GD)
Swiss-Prot	VAR_032206	Disease	p.LEU303ILE	Gaucher disease (GD)
Swiss-Prot	VAR_032202	Disease	p.LEU213PHE	Gaucher disease (GD)
Swiss-Prot	VAR_032203	Disease	p.LEU224PHE	Gaucher disease (GD)
Swiss-Prot	VAR_003295	Disease	p.LEU363PRO	Gaucher disease (GD)
Swiss-Prot	VAR_003321	Disease	p.LEU483PRO	Gaucher disease 2 (GD2)
Swiss-Prot	VAR_032216	Disease	p.LEU500PRO	Gaucher disease (GD)
Swiss-Prot	VAR_003325	Polymorphism	p.LEU509PRO	N/A
Swiss-Prot	VAR_032210	Disease	p.LEU410VAL	Gaucher disease (GD)
Swiss-Prot	VAR_003260	Disease	p.LYS118ASN	Gaucher disease (GD)
Swiss-Prot	VAR_003268	Disease	p.LYS196GLN	Gaucher disease (GD)
Swiss-Prot	VAR_010074	Disease	p.LYS452GLN	Gaucher disease (GD)
Swiss-Prot	VAR_032205	Disease	p.LYS237GLU	Gaucher disease (GD)
Swiss-Prot	VAR_063066	Polymorphism	p.LYS46GLU	N/A
Swiss-Prot	VAR_003319	Disease	p.LYS464GLU	Gaucher disease (GD)
Swiss-Prot	VAR_003288	Disease	p.LYS342ILE	Gaucher disease (GD)
Swiss-Prot	VAR_032412	Disease	p.MET400ILE	Gaucher disease (GD)
dbSNP	rs1141815	Polymorphism	p.MET92THR	N/A
Swiss-Prot	VAR_032199	Disease	p.MET162VAL	Gaucher disease (GD)
Swiss-Prot	VAR_032215	Disease	p.MET455VAL	Gaucher disease (GD)
Swiss-Prot	VAR_003281	Disease	p.PHE252ILE	Gaucher disease (GD)
Swiss-Prot	VAR_010073	Disease	p.PHE450ILE	Gaucher disease (GD)
Swiss-Prot	VAR_032409	Disease	p.PHE290LEU	Gaucher disease (GD)
Swiss-Prot	VAR_009041	Disease	p.PHE298LEU	Gaucher disease (GD)
Swiss-Prot	VAR_032214	Disease	p.PHE436SER	Gaucher disease (GD)
Swiss-Prot	VAR_003282	Disease	p.PHE255TYR	Gaucher disease (GD)
Swiss-Prot	VAR_003317	Disease	p.PHE456VAL	Gaucher disease (GD)
Swiss-Prot	VAR_003256	Disease	p.PHE76VAL	Gaucher disease (GD)
Swiss-Prot	VAR_003285	Disease	p.PRO305ARG	Gaucher disease (GD)
Swiss-Prot	VAR_003316	Disease	p.PRO454ARG	Gaucher disease (GD)
Swiss-Prot	VAR_032198	Disease	p.PRO161LEU	Gaucher disease (GD)
Swiss-Prot	VAR_009037	Disease	p.PRO198LEU	Gaucher disease (GD)
Swiss-Prot	VAR_032405	Disease	p.PRO221LEU	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003287	Disease	p.PRO328LEU	Gaucher disease (GD)
Swiss-Prot	VAR_010069	Disease	p.PRO426LEU	Gaucher disease (GD)
Swiss-Prot	VAR_003308	Disease	p.PRO430LEU	Gaucher disease (GD)
Swiss-Prot	VAR_010071	Disease	p.PRO440LEU	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003265	Disease	p.PRO161SER	Gaucher disease (GD)
Swiss-Prot	VAR_003271	Disease	p.PRO217SER	Gaucher disease (GD)
Swiss-Prot	VAR_032402	Disease	p.PRO198THR	Gaucher disease (GD)
Swiss-Prot	VAR_003272	Disease	p.PRO221THR	Gaucher disease (GD)
Swiss-Prot	VAR_010064	Disease	p.SER310ASN	Gaucher disease (GD)
Swiss-Prot	VAR_009046	Disease	p.SER405ASN	Gaucher disease (GD)
Swiss-Prot	VAR_032410	Polymorphism	p.SER310GLY	N/A
Swiss-Prot	VAR_010067	Disease	p.SER405GLY	Gaucher disease (GD)
Swiss-Prot	VAR_009034	Disease	p.SER146LEU	Gaucher disease (GD)
Swiss-Prot	VAR_003278	Disease	p.SER235PRO	Gaucher disease (GD)
Swiss-Prot	VAR_003283	Disease	p.SER276PRO	Gaucher disease (GD)
Swiss-Prot	VAR_003300	Disease	p.SER403THR	Gaucher disease (GD)
Swiss-Prot	VAR_032408	Disease	p.THR270ARG	Gaucher disease (GD)
Swiss-Prot	VAR_032400	Disease	p.THR173ILE	Gaucher disease (GD)
Swiss-Prot	VAR_003294	Disease	p.THR362ILE	Gaucher disease (GD)
Swiss-Prot	VAR_010075	Disease	p.THR530ILE	Gaucher disease 3 (GD3)
Swiss-Prot	VAR_003257	Disease	p.THR82ILE	Gaucher disease (GD)
Swiss-Prot	VAR_003301	Disease	p.THR408MET	Gaucher disease (GD)
Swiss-Prot	VAR_003266	Disease	p.THR173PRO	Gaucher disease (GD)
dbSNP	rs61748906	Polymorphism	p.TRP223ARG	N/A
Swiss-Prot	VAR_003273	Disease	p.TRP223ARG	Gaucher disease (GD)
Swiss-Prot	VAR_009047	Disease	p.TRP432ARG	Gaucher disease (GD)
Swiss-Prot	VAR_003290	Disease	p.TRP351CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003304	Disease	p.TRP417GLY	Gaucher disease (GD)
Swiss-Prot	VAR_010062	Disease	p.TYR244CYS	Gaucher disease (GD)
Swiss-Prot	VAR_009043	Disease	p.TYR343CYS	Gaucher disease (GD)
Swiss-Prot	VAR_032209	Disease	p.TYR402CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003318	Disease	p.TYR457CYS	Gaucher disease (GD)
Swiss-Prot	VAR_003280	Disease	p.TYR251HIS	Gaucher disease (GD)
Swiss-Prot	VAR_003291	Disease	p.TYR352HIS	Gaucher disease (GD)
Swiss-Prot	VAR_003315	Disease	p.TYR451HIS	Gaucher disease (GD)
Swiss-Prot	VAR_032407	Disease	p.VAL230GLU	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_003276	Disease	p.VAL230GLY	Gaucher disease 1 (GD1)
Swiss-Prot	VAR_010065	Disease	p.VAL391LEU	Gaucher disease (GD)
Swiss-Prot	VAR_010068	Disease	p.VAL414LEU	Gaucher disease (GD)
Swiss-Prot	VAR_003310	Disease	p.VAL433LEU	Gaucher disease (GD)
Swiss-Prot	VAR_010070	Disease	p.VAL437LEU	Gaucher disease 3 (GD3)
Swiss-Prot	VAR_063068	Polymorphism	p.VAL497LEU	N/A
Swiss-Prot	VAR_003255	Disease	p.VAL54LEU	Gaucher disease (GD)
Swiss-Prot	VAR_009048	Polymorphism	p.VAL437PHE	N/A
OMIM	606463.0028	Disease	p.ALA309VAL	GAUCHER DISEASE, TYPE I
OMIM	606463.0008	Disease	p.ARG463CYS	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE II, INCLUDED;;\|\|GAUCHER DISEASE, TYPE III, INCLUDED;;\|\|PARKINSON DISEASE,
OMIM	606463.0004	Disease	p.ARG119GLN	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, PERINATAL LETHAL, INCLUDED
OMIM	606463.0041	Disease	p.ARG257GLU	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0035	Disease	p.ARG353GLY	GAUCHER DISEASE, TYPE III
OMIM	606463.0022	Disease	p.ARG496HIS	GAUCHER DISEASE, TYPE I
OMIM	606463.0042	Disease	p.ARG131LEU	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0038	Disease	p.ARG359TER	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0026	Disease	p.ASN188SER	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0003	Disease	p.ASN370SER	GAUCHER DISEASE, TYPE I\|\|PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO, INCLUDED;;\|\|DEMENTIA, LEWY BODY, SUSCEPTIBILIT
OMIM	606463.0048	Disease	p.ASP443ASN	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
OMIM	606463.0011	Disease	p.ASP140HIS	GAUCHER DISEASE, TYPE I
OMIM	606463.0006 606463.0047	Disease	p.ASP409HIS	GAUCHER DISEASE, TYPE II\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0007	Disease	p.ASP409VAL	GAUCHER DISEASE, TYPE III
OMIM	606463.0031	Disease	p.CYS342GLY	GAUCHER DISEASE, TYPE II
OMIM	606463.0011	Disease	p.GLU326LYS	GAUCHER DISEASE, TYPE I
OMIM	606463.0030	Disease	p.GLY325ARG	GAUCHER DISEASE, TYPE II
OMIM	606463.0025	Disease	p.GLY46GLU	GAUCHER DISEASE, TYPE I
OMIM	606463.0040	Disease	p.GLY377SER	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0021	Disease	p.GLY478SER	GAUCHER DISEASE, TYPE I
OMIM	606463.0037	Disease	p.HIS311ARG	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0047	Disease	p.HIS255GLN	GAUCHER DISEASE, TYPE II\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0001	Disease	p.LEU444PRO	GAUCHER DISEASE, TYPE II\|\|GAUCHER DISEASE, TYPE III, INCLUDED;;\|\|GAUCHER DISEASE, TYPE I, INCLUDED;;\|\|PARKINSON DISEASE,
OMIM	606463.0045	Disease	p.LEU371VAL	GAUCHER DISEASE, TYPE I
OMIM	606463.0043	Disease	p.LYS79ASN	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0012	Disease	p.LYS157GLN	GAUCHER DISEASE, TYPE I
OMIM	606463.0013	Disease	p.PHE213ILE	GAUCHER DISEASE, TYPE III\|\|GAUCHER DISEASE, TYPE II, INCLUDED;;\|\|GAUCHER DISEASE, TYPE I, INCLUDED
OMIM	606463.0044	Disease	p.PHE251LEU	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0010	Disease	p.PHE216TYR	GAUCHER DISEASE, TYPE I
OMIM	606463.0027	Disease	p.PHE216VAL	GAUCHER DISEASE, TYPE I
OMIM	606463.0002	Disease	p.PRO415ARG	GAUCHER DISEASE, TYPE II
OMIM	606463.0016	Disease	p.PRO289LEU	GAUCHER DISEASE, TYPE I
OMIM	606463.0036	Disease	p.PRO401LEU	GAUCHER DISEASE, TYPE I
OMIM	606463.0019	Disease	p.PRO122SER	GAUCHER DISEASE, TYPE I
OMIM	606463.0032	Disease	p.SER364THR	GAUCHER DISEASE, TYPE I
OMIM	606463.0017	Disease	p.THR323ILE	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE II, INCLUDED
OMIM	606463.0029	Disease	p.TRP312CYS	GAUCHER DISEASE, TYPE I
OMIM	606463.0020	Disease	p.TYR212HIS	GAUCHER DISEASE, TYPE I
OMIM	606463.0024	Disease	p.VAL15LEU	GAUCHER DISEASE, TYPE I
OMIM	606463.0005	Disease	p.VAL394LEU	GAUCHER DISEASE, TYPE III\|\|GAUCHER DISEASE, TYPE I, INCLUDED
OMIM	606463.0039	Disease	p.VAL398PHE	GAUCHER DISEASE, PERINATAL LETHAL

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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