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Results for the Protein: NP_001124477
196114945

myocyte-specific enhancer factor 2C isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
3
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3
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0
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Default View:

MADS - smart00432
MADS - cd00120
MADS_SRF_like - cd00266
MADS_MEF2_like - cd00265
SRF-TF - pfam00319
HJURP_C - pfam12347




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MADScd001208.7e-36260
MADS_MEF2_likecd002653.5e-47278
MADS_SRF_likecd002665.9e-31283
SRF-TFpfam003198.5e-25959
MADSsmart004324.3e-37260
HJURP_Cpfam123471.7e-3390154

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600662.0004 Diseasep.GLY27ALAMENTAL RETARDATION, AUTOSOMAL DOMINANT 20
OMIM600662.0002 Diseasep.LEU38GLNMENTAL RETARDATION, AUTOSOMAL DOMINANT 20
OMIM600662.0001 Diseasep.SER208TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 20



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