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Results for the Protein: P78337
108935922

PITX1_HUMAN RecName: Full=Pituitary homeobox 1; AltName: Full=Hindlimb-expressed homeobox protein backfoot; AltName: Full=Homeobox protein PITX1; AltName: Full=Paired-like homeodomain transcription factor 1

Known Diseases associated with this Protein:
  CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR
  CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (CCF)
  MIRROR-IMAGE POLYDACTYLY
2
1
1
1
1
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Default View:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086
OAR - pfam03826


Swiss-Prot Protein: P78337
Identical to: NP_002644
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000869.2e-2690148
COG5576COG55761.3e-0535177
Homeoboxpfam000462.8e-2990146
OARpfam038261.1e-06275295
HOXsmart003893e-2690145

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058113Diseasep.GLU130LYSClubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)
dbSNPrs479632 Polymorphismp.GLY299ALAN/A
OMIM602149.0001 Diseasep.GLU130LYSCLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR||MIRROR-IMAGE POLYDACTYLY



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