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Results for the Protein: NP_001153173
228480209

four and a half LIM domains protein 1 isoform 3 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 6
  MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
  MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
  MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
  SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
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Default View:

LIM - smart00132
LIM - pfam00412




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LIMpfam004123.8e-11130187
LIMpfam004121.7e-11191245
LIMpfam004126.9e-05250309
LIMsmart001322.7e-1268106
LIMsmart001323.1e-13129167
LIMsmart001321.8e-12190226
LIMsmart001328e-12249290

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300163.0009 Diseasep.CYS133ARGMYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM300163.0006 Diseasep.CYS182ARGMYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM300163.0011 Diseasep.CYS238ARGEMERY-DREIFUSS MUSCULAR DYSTROPHY 6
OMIM300163.0005 Diseasep.CYS161PHEMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0002 Diseasep.CYS253TRPMYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
OMIM300163.0008 Diseasep.CYS179TYRMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0007 Diseasep.CYS182TYRMYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM300163.0016 Diseasep.HIS152GLNMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0015 Diseasep.HIS152LEUMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0004 Diseasep.HIS152TYRMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0001 Diseasep.TRP151SERSCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT



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