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Results for the Protein: NP_006874
6031203

short stature homeobox protein isoform SHOXb [Homo sapiens]

Known Diseases associated with this Protein:
  LANGER MESOMELIC DYSPLASIA
  LANGER MESOMELIC DYSPLASIA, INCLUDED
  LERI-WEILL DYSCHONDROSTEOSIS
  LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED
  SHORT STATURE, IDIOPATHIC, X-LINKED
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Default View:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


RefSeq Protein: NP_006874
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5576COG55763.6e-0574205
Homeoboxpfam000461.5e-33118174
HOXsmart003891.1e-28118173

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM312865.0015 Diseasep.ALA170ASPLERI-WEILL DYSCHONDROSTEOSIS
OMIM312865.0014 Diseasep.ALA170PROLERI-WEILL DYSCHONDROSTEOSIS||LANGER MESOMELIC DYSPLASIA, INCLUDED
OMIM312865.0007 Diseasep.ARG173CYSLERI-WEILL DYSCHONDROSTEOSIS
OMIM312865.0005 Diseasep.ARG153LEULERI-WEILL DYSCHONDROSTEOSIS
OMIM312865.0001 Diseasep.ARG195TERSHORT STATURE, IDIOPATHIC, X-LINKED
OMIM312865.0008 Diseasep.ARG168TRPLANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED
OMIM312865.0011 Diseasep.GLU102TERLERI-WEILL DYSCHONDROSTEOSIS
OMIM312865.0004 Diseasep.LEU132VALLERI-WEILL DYSCHONDROSTEOSIS
OMIM312865.0002 Diseasep.TYR199TERLERI-WEILL DYSCHONDROSTEOSIS



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