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Results for the Protein: NP_001245261
385251404

galactose-1-phosphate uridylyltransferase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  GALACTOSEMIA
12
0
12
0
0
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Default View:

GalT - COG1085
GalT - cd00608
HIT_like - cd00468
GalP_UDP_tr_C - pfam02744




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GalTcd006082.8e-1183252
HIT_likecd004680.000231382
GalP_UDP_tr_Cpfam027442.6e-10593261

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM606999.0015 Diseasep.ARG224GLYGALACTOSEMIA
OMIM606999.0002 Diseasep.ARG224TRPGALACTOSEMIA
OMIM606999.0006 Diseasep.GLN79ARGGALACTOSEMIA
OMIM606999.0014 Diseasep.GLU94LYSGALACTOSEMIA
OMIM606999.0009 Diseasep.HIS210GLNGALACTOSEMIA
OMIM606999.0007 Diseasep.LEU6PROGALACTOSEMIA
OMIM606999.0013 Diseasep.LYS176ASNGALACTOSEMIA
OMIM606999.0001 Diseasep.MET33LYSGALACTOSEMIA
OMIM606999.0016 Diseasep.PHE85LEUGALACTOSEMIA
OMIM606999.0008 Diseasep.PHE62SERGALACTOSEMIA
OMIM606999.0011 Diseasep.PRO74THRGALACTOSEMIA
OMIM606999.0010 Diseasep.SER26LEUGALACTOSEMIA



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