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Results for the Protein: P48431
1351091

SOX2_HUMAN RecName: Full=Transcription factor SOX-2

Known Diseases associated with this Protein:
  MICROPHTHALMIA, SYNDROMIC 3
  OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
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Default View:

SOX-TCF_HMG-box - cd01388
HMG - smart00398
MATA_HMG-box - cd01389
HMG_box - pfam00505
HMGB-UBF_HMG-box - cd01390
HMG-box - cd00084
SOXp - pfam12336


Swiss-Prot Protein: P48431
Identical to: NP_003097
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SOX-TCF_HMG-boxcd013882.6e-4540111
MATA_HMG-boxcd013893.2e-1740116
HMG-boxcd000841.3e-2541106
HMGB-UBF_HMG-boxcd013906.6e-1741106
HMG_boxpfam005051.7e-3441109
HMGsmart003982.3e-2940109
SOXppfam123363.4e-43110200

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM184429.0013 Diseasep.ALA191THROPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
OMIM184429.0008 Diseasep.ARG74PROMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0009 Diseasep.ASN46LYSMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0005 Diseasep.GLN155TERMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0001 Diseasep.GLN177TERMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0007 Diseasep.GLN55TERMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0002 Diseasep.GLU93TERMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0012 Diseasep.GLY130ALAOPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM
OMIM184429.0004 Diseasep.LEU97PROMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0017 Diseasep.LEU82TERMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0018 Diseasep.PHE48TERMICROPHTHALMIA, SYNDROMIC 3
OMIM184429.0003 Diseasep.SER83TERMICROPHTHALMIA, SYNDROMIC 3



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