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Results for the Protein: Q0VG99
290457624

MESP2_HUMAN RecName: Full=Mesoderm posterior protein 2; AltName: Full=Class C basic helix-loop-helix protein 6; Short=bHLHc6

Known Diseases associated with this Protein:
  SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
3
4
3
1
3
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Default View:

HLH - cd00083
HLH - pfam00010
HLH - smart00353


Swiss-Prot Protein: Q0VG99
Identical to: NP_001035047
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HLHpfam000101.7e-1582136
HLHsmart003534.1e-1187141

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046779Polymorphismp.ALA66GLYN/A
Swiss-ProtVAR_046780Polymorphismp.LEU125VALN/A
dbSNPrs71647807 Polymorphismp.SER224PHEN/A
Swiss-ProtVAR_061257Polymorphismp.VAL138METN/A
OMIM605195.0002 Diseasep.GLU103TERSPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
OMIM605195.0004 Diseasep.GLU230TERSPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
OMIM605195.0003 Diseasep.LEU125VALSPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE



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