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Results for the Protein: P55771
8247954

PAX9_HUMAN RecName: Full=Paired box protein Pax-9

Known Diseases associated with this Protein:
  TOOTH AGENESIS SELECTIVE 3 (STHAG3)
  TOOTH AGENESIS, SELECTIVE, 3
9
1
8
1
1
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PAX - smart00351


Swiss-Prot Protein: P55771
Identical to: NP_006185
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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 ↕
dbSNPrs4904210 Polymorphismp.ALA240PRON/A
Swiss-ProtVAR_015698Diseasep.GLY51SERTooth agenesis selective 3 (STHAG3)
OMIM167416.0007 Diseasep.ARG28PROTOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0008 Diseasep.ARG26TRPTOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0015 Diseasep.ARG47TRPTOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0013 Diseasep.GLY51SERTOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0009 Diseasep.ILE87PHETOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0005 Diseasep.LEU21PROTOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0004 Diseasep.LYS91GLUTOOTH AGENESIS, SELECTIVE, 3
OMIM167416.0002 Diseasep.LYS114TERTOOTH AGENESIS, SELECTIVE, 3



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