Results for the protein: NP

Results for the Protein: NP_001165282

284807150

2629

GBA

NCBI

glucosylceramidase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  DEMENTIA, LEWY BODY, SUSCEPTIBILIT
  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

38

3

38

3

0

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Default View: Glyco_hydro_30 - pfam02055 COG5520 - COG5520	RefSeq Protein: NP_001165282 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyco_hydro_30	pfam02055		1	446

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs364897	Polymorphism	p.ASN140SER	N/A
dbSNP	rs1141815	Polymorphism	p.MET5THR	N/A
dbSNP	rs61748906	Polymorphism	p.TRP136ARG	N/A
OMIM	606463.0028	Disease	p.ALA222VAL	GAUCHER DISEASE, TYPE I
OMIM	606463.0008	Disease	p.ARG376CYS	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE II, INCLUDED;;\|\|GAUCHER DISEASE, TYPE III, INCLUDED;;\|\|PARKINSON DISEASE,
OMIM	606463.0004	Disease	p.ARG32GLN	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, PERINATAL LETHAL, INCLUDED
OMIM	606463.0041	Disease	p.ARG170GLU	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0035	Disease	p.ARG266GLY	GAUCHER DISEASE, TYPE III
OMIM	606463.0022	Disease	p.ARG409HIS	GAUCHER DISEASE, TYPE I
OMIM	606463.0042	Disease	p.ARG44LEU	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0038	Disease	p.ARG272TER	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0026	Disease	p.ASN101SER	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0003	Disease	p.ASN283SER	GAUCHER DISEASE, TYPE I\|\|PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO, INCLUDED;;\|\|DEMENTIA, LEWY BODY, SUSCEPTIBILIT
OMIM	606463.0048	Disease	p.ASP356ASN	PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
OMIM	606463.0006 606463.0047	Disease	p.ASP322HIS	GAUCHER DISEASE, TYPE II\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0011	Disease	p.ASP53HIS	GAUCHER DISEASE, TYPE I
OMIM	606463.0007	Disease	p.ASP322VAL	GAUCHER DISEASE, TYPE III
OMIM	606463.0031	Disease	p.CYS255GLY	GAUCHER DISEASE, TYPE II
OMIM	606463.0011	Disease	p.GLU239LYS	GAUCHER DISEASE, TYPE I
OMIM	606463.0030	Disease	p.GLY238ARG	GAUCHER DISEASE, TYPE II
OMIM	606463.0040	Disease	p.GLY290SER	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0021	Disease	p.GLY391SER	GAUCHER DISEASE, TYPE I
OMIM	606463.0037	Disease	p.HIS224ARG	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0047	Disease	p.HIS168GLN	GAUCHER DISEASE, TYPE II\|\|GAUCHER DISEASE, TYPE III, INCLUDED
OMIM	606463.0001	Disease	p.LEU357PRO	GAUCHER DISEASE, TYPE II\|\|GAUCHER DISEASE, TYPE III, INCLUDED;;\|\|GAUCHER DISEASE, TYPE I, INCLUDED;;\|\|PARKINSON DISEASE,
OMIM	606463.0045	Disease	p.LEU284VAL	GAUCHER DISEASE, TYPE I
OMIM	606463.0012	Disease	p.LYS70GLN	GAUCHER DISEASE, TYPE I
OMIM	606463.0013	Disease	p.PHE126ILE	GAUCHER DISEASE, TYPE III\|\|GAUCHER DISEASE, TYPE II, INCLUDED;;\|\|GAUCHER DISEASE, TYPE I, INCLUDED
OMIM	606463.0044	Disease	p.PHE164LEU	GAUCHER DISEASE, PERINATAL LETHAL
OMIM	606463.0010	Disease	p.PHE129TYR	GAUCHER DISEASE, TYPE I
OMIM	606463.0027	Disease	p.PHE129VAL	GAUCHER DISEASE, TYPE I
OMIM	606463.0002	Disease	p.PRO328ARG	GAUCHER DISEASE, TYPE II
OMIM	606463.0016	Disease	p.PRO202LEU	GAUCHER DISEASE, TYPE I
OMIM	606463.0036	Disease	p.PRO314LEU	GAUCHER DISEASE, TYPE I
OMIM	606463.0019	Disease	p.PRO35SER	GAUCHER DISEASE, TYPE I
OMIM	606463.0032	Disease	p.SER277THR	GAUCHER DISEASE, TYPE I
OMIM	606463.0017	Disease	p.THR236ILE	GAUCHER DISEASE, TYPE I\|\|GAUCHER DISEASE, TYPE II, INCLUDED
OMIM	606463.0029	Disease	p.TRP225CYS	GAUCHER DISEASE, TYPE I
OMIM	606463.0020	Disease	p.TYR125HIS	GAUCHER DISEASE, TYPE I
OMIM	606463.0005	Disease	p.VAL307LEU	GAUCHER DISEASE, TYPE III\|\|GAUCHER DISEASE, TYPE I, INCLUDED
OMIM	606463.0039	Disease	p.VAL311PHE	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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