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Results for the Protein: O15119
28381401

TBX3_HUMAN RecName: Full=T-box transcription factor TBX3; Short=T-box protein 3

Known Diseases associated with this Protein:
  ULNAR-MAMMARY SYNDROME
  ULNAR-MAMMARY SYNDROME (UMS)
4
1
2
1
2
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Default View:

TBOX - cd00182
TBOX - smart00425
T-box - pfam00907
TBX - pfam12598


Swiss-Prot Protein: O15119
Identical to: NP_057653
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
T-boxpfam009073.2e-133104306
TBOXsmart004253.3e-120103310
TBXpfam125982.3e-45323413

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009601Diseasep.LEU143PROUlnar-mammary syndrome (UMS)
dbSNPrs78115331 Polymorphismp.SER396THRN/A
Swiss-ProtVAR_009602Diseasep.TYR149SERUlnar-mammary syndrome (UMS)
OMIM601621.0005 Diseasep.GLN331TERULNAR-MAMMARY SYNDROME
OMIM601621.0003 Diseasep.LYS273TERULNAR-MAMMARY SYNDROME



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