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Results for the Protein: P50219
259016336

MNX1_HUMAN RecName: Full=Motor neuron and pancreas homeobox protein 1; AltName: Full=Homeobox protein HB9

Known Diseases associated with this Protein:
  CURRARINO SYNDROME
  CURRARINO SYNDROME (CURRAS)
15
0
4
0
11
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Default View:

HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


Swiss-Prot Protein: P50219
Identical to: NP_005506
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Homeoboxpfam000461.9e-30242298
HOXsmart003891.2e-25242297

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017881Diseasep.ARG293GLNCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017874Diseasep.ARG245GLYCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017875Diseasep.ARG245HISCurrarino syndrome (CURRAS)
Swiss-ProtVAR_068473Diseasep.ARG243TRPCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017880Diseasep.ARG292TRPCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017882Diseasep.ARG293TRPCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017879Diseasep.GLN290PROCurrarino syndrome (CURRAS)
Swiss-ProtVAR_068474Diseasep.PHE289SERCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017876Diseasep.THR246SERCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017877Diseasep.TRP288GLYCurrarino syndrome (CURRAS)
Swiss-ProtVAR_017878Diseasep.TRP288LEUCurrarino syndrome (CURRAS)
OMIM142994.0002 Diseasep.GLU261TERCURRARINO SYNDROME
OMIM142994.0010 Diseasep.GLU283TERCURRARINO SYNDROME
OMIM142994.0008 Diseasep.THR248SERCURRARINO SYNDROME
OMIM142994.0004 Diseasep.TYR166TERCURRARINO SYNDROME



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