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Results for the Protein: Q8NCR0
74751196

B3GL2_HUMAN RecName: Full=UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2; Short=Beta-1,3-GalNAc-T2; AltName: Full=Beta-1,3-N-acetylgalactosaminyltransferase II

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 11
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A11 (MDDGA11)
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1
5
0
5
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Galactosyl_T - pfam01762


Swiss-Prot Protein: Q8NCR0
Identical to: NP_689703
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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 ↕
Swiss-ProtVAR_069641Diseasep.ARG292PROMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)
Swiss-ProtVAR_035860Polymorphismp.ASN203SERN/A
Swiss-ProtVAR_069638Diseasep.GLY247GLUMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)
Swiss-ProtVAR_069639Diseasep.VAL252GLYMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)
Swiss-ProtVAR_069640Diseasep.VAL268METMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)
OMIM610194.0002 Diseasep.ARG292PROMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11
OMIM610194.0006 Diseasep.GLN475TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11
OMIM610194.0001 Diseasep.GLY247GLUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11
OMIM610194.0004 Diseasep.VAL252GLYMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11
OMIM610194.0005 Diseasep.VAL268METMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 11



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