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Results for the Protein: Q9HCG7
143018392

GBA2_HUMAN RecName: Full=Non-lysosomal glucosylceramidase; Short=NLGase; AltName: Full=Beta-glucocerebrosidase 2; Short=Beta-glucosidase 2; AltName: Full=Glucosylceramidase 2

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (SPG46)
9
1
7
1
2
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Default View:

COG4354 - COG4354
GBA2_N - pfam12215
DUF608 - pfam04685


Swiss-Prot Protein: Q9HCG7
Identical to: NP_065995
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4354COG43546.8e-99140894
DUF608pfam046851.8e-199521888
GBA2_Npfam122154.7e-131151455

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069635Diseasep.ARG873HISSpastic paraplegia 46, autosomal recessive (SPG46)
Swiss-ProtVAR_069634Diseasep.ARG630TRPSpastic paraplegia 46, autosomal recessive (SPG46)
dbSNPrs79325774 Polymorphismp.GLY423SERN/A
OMIM609471.0006 Diseasep.ARG873HISSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
OMIM609471.0002 Diseasep.ARG234TERSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
OMIM609471.0005 Diseasep.ARG340TERSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
OMIM609471.0001 Diseasep.ARG630TRPSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
OMIM609471.0008 Diseasep.ASP594HISSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
OMIM609471.0003 Diseasep.TRP173TERSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
OMIM609471.0007 Diseasep.TYR1TERSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE



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