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Results for the Protein: O60663
485956425

LMX1B_HUMAN RecName: Full=LIM homeobox transcription factor 1-beta; AltName: Full=LIM/homeobox protein 1.2; Short=LMX-1.2; AltName: Full=LIM/homeobox protein LMX1B

Known Diseases associated with this Protein:
  NAIL-PATELLA SYNDROME
  NAIL-PATELLA SYNDROME (NPS)
37
2
7
1
31
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Default View:

LIM - smart00132
HOX - smart00389


Swiss-Prot Protein: O60663
Identical to: NP_001167618
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LIMsmart001325.2e-12114153
HOXsmart003891.4e-21220275

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004201Diseasep.ALA236PRONail-patella syndrome (NPS)
Swiss-ProtVAR_004204Diseasep.ALA253VALNail-patella syndrome (NPS)
Swiss-ProtVAR_004200Diseasep.ARG223GLNNail-patella syndrome (NPS)
Swiss-ProtVAR_004203Diseasep.ARG249PRONail-patella syndrome (NPS)
Swiss-ProtVAR_004205Diseasep.ASN269LYSNail-patella syndrome (NPS)
Swiss-ProtVAR_015209Diseasep.ASP106GLYNail-patella syndrome (NPS)
Swiss-ProtVAR_015201Diseasep.CYS59ARGNail-patella syndrome (NPS)
Swiss-ProtVAR_015205Diseasep.CYS80ARGNail-patella syndrome (NPS)
Swiss-ProtVAR_015208Diseasep.CYS86ARGNail-patella syndrome (NPS)
Swiss-ProtVAR_015206Diseasep.CYS83GLYNail-patella syndrome (NPS)
Swiss-ProtVAR_004198Diseasep.CYS118PHENail-patella syndrome (NPS)
Swiss-ProtVAR_015211Diseasep.CYS146PHENail-patella syndrome (NPS)
Swiss-ProtVAR_015192Diseasep.CYS83PHENail-patella syndrome (NPS)
Swiss-ProtVAR_015210Diseasep.CYS143SERNail-patella syndrome (NPS)
Swiss-ProtVAR_015202Diseasep.CYS59SERNail-patella syndrome (NPS)
Swiss-ProtVAR_015194Diseasep.CYS103TRPNail-patella syndrome (NPS)
Swiss-ProtVAR_004199Diseasep.CYS165TRPNail-patella syndrome (NPS)
Swiss-ProtVAR_015193Diseasep.CYS83TRPNail-patella syndrome (NPS)
Swiss-ProtVAR_015195Diseasep.CYS118TYRNail-patella syndrome (NPS)
Swiss-ProtVAR_015197Diseasep.CYS140TYRNail-patella syndrome (NPS)
Swiss-ProtVAR_015212Diseasep.CYS146TYRNail-patella syndrome (NPS)
Swiss-ProtVAR_015207Diseasep.CYS83TYRNail-patella syndrome (NPS)
Swiss-ProtVAR_015190Diseasep.HIS77ASNNail-patella syndrome (NPS)
Swiss-ProtVAR_015203Diseasep.HIS77GLNNail-patella syndrome (NPS)
Swiss-ProtVAR_015196Diseasep.HIS137TYRNail-patella syndrome (NPS)
Swiss-ProtVAR_015204Diseasep.HIS77TYRNail-patella syndrome (NPS)
Swiss-ProtVAR_015213Diseasep.LEU252PRONail-patella syndrome (NPS)
Swiss-ProtVAR_015191Diseasep.LEU81TRPNail-patella syndrome (NPS)
dbSNPrs10115304 Polymorphismp.SER369ARGN/A
Swiss-ProtVAR_047755Polymorphismp.SER75PHEN/A
Swiss-ProtVAR_004202Diseasep.SER241PRONail-patella syndrome (NPS)
Swiss-ProtVAR_015198Diseasep.TRP266CYSNail-patella syndrome (NPS)
OMIM602575.0008 Diseasep.ARG200GLNNAIL-PATELLA SYNDROME
OMIM602575.0002 Diseasep.ARG198TERNAIL-PATELLA SYNDROME
OMIM602575.0007 Diseasep.ARG208TERNAIL-PATELLA SYNDROME
OMIM602575.0011 Diseasep.ARG226TERNAIL-PATELLA SYNDROME
OMIM602575.0001 Diseasep.ASN246LYSNAIL-PATELLA SYNDROME
OMIM602575.0004 Diseasep.CYS95PHENAIL-PATELLA SYNDROME
OMIM602575.0006 Diseasep.GLN59TERNAIL-PATELLA SYNDROME



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