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Results for the Protein: NP_001188330
319655717

galactocerebrosidase isoform c precursor [Homo sapiens]

Known Diseases associated with this Protein:
  KRABBE DISEASE
7
4
7
4
0
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Default View:

Glyco_hydro_59 - pfam02057




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1805078 Polymorphismp.ARG161CYSN/A
dbSNPrs34362748 Polymorphismp.ASP225ASNN/A
dbSNPrs398607 Polymorphismp.ILE539THRN/A
dbSNPrs421262 Polymorphismp.THR618ALAN/A
OMIM606890.0003 Diseasep.ASP521ASNKRABBE DISEASE
OMIM606890.0001 Diseasep.GLU362TERKRABBE DISEASE
OMIM606890.0005 Diseasep.GLY530ARGKRABBE DISEASE
OMIM606890.0008 Diseasep.GLY263ASPKRABBE DISEASE
OMIM606890.0010 Diseasep.GLY41SERKRABBE DISEASE
OMIM606890.0004 Diseasep.ILE576SERKRABBE DISEASE
OMIM606890.0009 Diseasep.PRO295ARGKRABBE DISEASE



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