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Results for the Protein: Q9H161
254763249

ALX4_HUMAN RecName: Full=Homeobox protein aristaless-like 4

Known Diseases associated with this Protein:
  CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
  FRONTONASAL DYSPLASIA 2
  PARIETAL FORAMINA 2
  PARIETAL FORAMINA 2 (PFM2)
10
6
8
2
6
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Default View:

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


Swiss-Prot Protein: Q9H161
Identical to: NP_068745
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000861e-28215273
COG5576COG55762.9e-06163316
Homeoboxpfam000461.5e-34215271
OARpfam038261.3e-09386406
HOXsmart003891.1e-28215270

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010785Diseasep.ARG218GLNParietal foramina 2 (PFM2)
Swiss-ProtVAR_010897Diseasep.ARG272PROParietal foramina 2 (PFM2)
Swiss-ProtVAR_058413Polymorphismp.ARG257THRN/A
dbSNPrs3824915 Polymorphismp.ARG35THRN/A
Swiss-ProtVAR_069280Polymorphismp.LYS211GLUN/A
Swiss-ProtVAR_069281Polymorphismp.PRO306LEUN/A
dbSNPrs12421995 Polymorphismp.PRO102SERN/A
Swiss-ProtVAR_069279Polymorphismp.VAL7PHEN/A
OMIM605420.0003 Diseasep.ARG218GLNPARIETAL FORAMINA 2
OMIM605420.0005 Diseasep.ARG272PROPARIETAL FORAMINA 2
OMIM605420.0008 Diseasep.ARG265TERFRONTONASAL DYSPLASIA 2
OMIM605420.0001 Diseasep.GLN140TERPARIETAL FORAMINA 2
OMIM605420.0002 Diseasep.GLN246TERPARIETAL FORAMINA 2
OMIM605420.0010 Diseasep.LYS211GLUCRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
OMIM605420.0006 Diseasep.SER207TERPARIETAL FORAMINA 2
OMIM605420.0009 Diseasep.VAL7PHECRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO



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