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Results for the Protein: P54821
6174916

PRRX1_HUMAN RecName: Full=Paired mesoderm homeobox protein 1; AltName: Full=Homeobox protein PHOX1; AltName: Full=Paired-related homeobox protein 1; Short=PRX-1

Known Diseases associated with this Protein:
  AGNATHIA-OTOCEPHALY COMPLEX
  AGNATHIA-OTOCEPHALY COMPLEX (AGOTC)
3
0
2
0
1
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Default View:

HOX - smart00389


Swiss-Prot Protein: P54821
Identical to: NP_073207
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HOXsmart003891.6e-2595150

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066414Diseasep.PHE113SERAgnathia-otocephaly complex (AGOTC)
OMIM167420.0002 Diseasep.ALA231PROAGNATHIA-OTOCEPHALY COMPLEX
OMIM167420.0001 Diseasep.PHE113SERAGNATHIA-OTOCEPHALY COMPLEX



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