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Results for the Protein: NP_542448
18201894

T-box transcription factor TBX5 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  HOLT-ORAM SYNDROME
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Default View:

TBOX - cd00182
TBOX - smart00425
T-box - pfam00907


RefSeq Protein: NP_542448
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TBOXcd001827.5e-1433192
T-boxpfam009071.4e-1265189
TBOXsmart004255.7e-1274193

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM601620.0003 Diseasep.ARG187GLNHOLT-ORAM SYNDROME
OMIM601620.0005 Diseasep.ARG187TRPHOLT-ORAM SYNDROME
OMIM601620.0002 Diseasep.GLU19TERHOLT-ORAM SYNDROME
OMIM601620.0004 Diseasep.GLY30ARGHOLT-ORAM SYNDROME
OMIM601620.0008 Diseasep.ILE4THRHOLT-ORAM SYNDROME
OMIM601620.0009 Diseasep.TYR86TERHOLT-ORAM SYNDROME



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