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Results for the Protein: Q00973
1168736

B4GN1_HUMAN RecName: Full=Beta-1,4 N-acetylgalactosaminyltransferase 1; AltName: Full=(N-acetylneuraminyl)-galactosylglucosylceramide; AltName: Full=GM2/GD2 synthase; AltName: Full=GalNAc-T

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (SPG26)
5
3
3
1
4
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Glycos_transf_2 - pfam00535


Swiss-Prot Protein: Q00973
Identical to: NP_001469
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Glycos_transf_2pfam005351.4e-13280450

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_049237Polymorphismp.ALA516VALN/A
Swiss-ProtVAR_070235Diseasep.ARG300CYSSpastic paraplegia 26, autosomal recessive (SPG26)
Swiss-ProtVAR_070236Diseasep.ASP433ALASpastic paraplegia 26, autosomal recessive (SPG26)
Swiss-ProtVAR_012053Polymorphismp.GLY172ARGN/A
dbSNPrs774896 Polymorphismp.LEU35VALN/A
OMIM601873.0002 Diseasep.ARG228TERSPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
OMIM601873.0005 Diseasep.ASP433ALASPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
OMIM601873.0004 Diseasep.GLN120TERSPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE



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