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Results for the Protein: P56178
12644329

DLX5_HUMAN RecName: Full=Homeobox protein DLX-5

Known Diseases associated with this Protein:
  RECESSIVE (1 FAMILY)
  SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL
  SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE (SHFM1D)
2
1
1
1
1
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Default View:

DLL_N - pfam12413
HOX - smart00389
homeodomain - cd00086


Swiss-Prot Protein: P56178
Identical to: NP_005212
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000861.7e-24138196
DLL_Npfam124131.1e-3932118
HOXsmart003892.7e-24138193

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067413Diseasep.GLN178PROSplit-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)
dbSNPrs35273378 Polymorphismp.SER234ARGN/A
OMIM600028.0001 Diseasep.GLN178PROSPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL||RECESSIVE (1 family)



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