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Results for the Protein: Q13642
59800384

FHL1_HUMAN RecName: Full=Four and a half LIM domains protein 1; Short=FHL-1; AltName: Full=Skeletal muscle LIM-protein 1; Short=SLIM; Short=SLIM-1

Known Diseases associated with this Protein:
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 6
  MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
  MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE (RBM)
  MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
  MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
  MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (XMPMA)
  SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
  SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (SPM)
19
0
13
0
6
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Default View:

LIM - smart00132
LIM - pfam00412


Swiss-Prot Protein: Q13642
Identical to: NP_001153174
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LIMpfam004122.5e-064095
LIMpfam004123.8e-11101158
LIMpfam004121.7e-11162216
LIMsmart001322.7e-123977
LIMsmart001323.1e-13100138
LIMsmart001321.8e-12161197

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046001Diseasep.CYS153ARGMyopathy, reducing body, X-linked, early-onset, severe (RBM)
Swiss-ProtVAR_046000Diseasep.CYS132PHEMyopathy, reducing body, X-linked, early-onset, severe (RBM)
Swiss-ProtVAR_042605Diseasep.CYS224TRPMyopathy, X-linked, with postural muscle atrophy (XMPMA)
Swiss-ProtVAR_046002Diseasep.CYS153TYRMyopathy, reducing body, X-linked, early-onset, severe (RBM)
Swiss-ProtVAR_045999Diseasep.HIS123TYRMyopathy, reducing body, X-linked, early-onset, severe (RBM)
Swiss-ProtVAR_042603Diseasep.TRP122SERScapuloperoneal myopathy, X-linked dominant (SPM)
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
OMIM300163.0010 Diseasep.TER281GLUEMERY-DREIFUSS MUSCULAR DYSTROPHY 6
OMIM300163.0001 Diseasep.TRP122SERSCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
OMIM300163.0013 Diseasep.VAL280METMYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY



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