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Results for the Protein: Q14807
19863381

KIF22_HUMAN RecName: Full=Kinesin-like protein KIF22; AltName: Full=Kinesin-like DNA-binding protein; AltName: Full=Kinesin-like protein 4

Known Diseases associated with this Protein:
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, 2 (SEMDJL2)
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
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KISc - smart00129


Swiss-Prot Protein: Q14807
Identical to: NP_015556
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067348Diseasep.ARG149GLNSpondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2)
Swiss-ProtVAR_067349Polymorphismp.ARG232GLNN/A
Swiss-ProtVAR_067347Diseasep.ARG149LEUSpondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2)
Swiss-ProtVAR_067345Diseasep.PRO148LEUSpondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2)
Swiss-ProtVAR_067346Diseasep.PRO148SERSpondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2)
OMIM603213.0003 Diseasep.ARG149GLNSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
OMIM603213.0004 Diseasep.ARG149LEUSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
OMIM603213.0002 Diseasep.PRO148LEUSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
OMIM603213.0001 Diseasep.PRO148SERSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2



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