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Results for the Protein: NP_001153172
228480207

four and a half LIM domains protein 1 isoform 2 [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-11101158
LIMpfam004121.7e-11162216
LIMpfam004126.9e-05221280
LIMsmart001322.7e-123977
LIMsmart001323.1e-13100138
LIMsmart001321.8e-12161197
LIMsmart001328e-12220261

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300163.0009 Diseasep.CYS104ARGMYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM300163.0006 Diseasep.CYS153ARGMYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM300163.0011 Diseasep.CYS209ARGEMERY-DREIFUSS MUSCULAR DYSTROPHY 6
OMIM300163.0005 Diseasep.CYS132PHEMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0002 Diseasep.CYS224TRPMYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
OMIM300163.0008 Diseasep.CYS150TYRMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0007 Diseasep.CYS153TYRMYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
OMIM300163.0016 Diseasep.HIS123GLNMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0015 Diseasep.HIS123LEUMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0004 Diseasep.HIS123TYRMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
OMIM300163.0001 Diseasep.TRP122SERSCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT



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