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Results for the Protein: P04198
127604

MYCN_HUMAN RecName: Full=N-myc proto-oncogene protein; AltName: Full=Class E basic helix-loop-helix protein 37; Short=bHLHe37

Known Diseases associated with this Protein:
  FEINGOLD SYNDROME
  FEINGOLD SYNDROME 1 (FGLDS1)
9
0
6
0
3
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HLH - smart00353


Swiss-Prot Protein: P04198
Identical to: NP_005369
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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_031952Diseasep.ARG393HISFeingold syndrome 1 (FGLDS1)
Swiss-ProtVAR_031954Diseasep.ARG394HISFeingold syndrome 1 (FGLDS1)
Swiss-ProtVAR_031953Diseasep.ARG393SERFeingold syndrome 1 (FGLDS1)
OMIM164840.0006 Diseasep.ARG382HISFEINGOLD SYNDROME
OMIM164840.0001 Diseasep.ARG393HISFEINGOLD SYNDROME
OMIM164840.0003 Diseasep.ARG394HISFEINGOLD SYNDROME
OMIM164840.0002 Diseasep.ARG393SERFEINGOLD SYNDROME
OMIM164840.0004 Diseasep.GLU73TERFEINGOLD SYNDROME
OMIM164840.0007 Diseasep.TRP77TERFEINGOLD SYNDROME



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