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Results for the Protein: Q5JTC6
142984753

AMER1_HUMAN RecName: Full=APC membrane recruitment protein 1; Short=Amer1; AltName: Full=Protein FAM123B; AltName: Full=Wilms tumor gene on the X chromosome protein

Known Diseases associated with this Protein:
  OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
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1
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Default View:

WTX - pfam09422


Swiss-Prot Protein: Q5JTC6
Identical to: NP_689637
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WTXpfam094224.7e-24688539

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34677493 Polymorphismp.PHE159LEUN/A
Swiss-ProtVAR_053871Polymorphismp.ALA278SERN/A
Swiss-ProtVAR_031304Polymorphismp.LYS292ASNN/A
Swiss-ProtVAR_053870Polymorphismp.PHE159LEUN/A
OMIM300647.0004 Diseasep.ARG353TEROSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
OMIM300647.0005 Diseasep.ARG358TEROSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
OMIM300647.0006 Diseasep.CYS143TEROSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
OMIM300647.0008 Diseasep.GLN271TEROSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS



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