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Results for the Protein: NP_001153175
228480221

four and a half LIM domains protein 1 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
  MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
  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
LIMsmart001322.7e-123977
LIMsmart001323.1e-13100138

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
OMIM300163.0005 Diseasep.CYS132PHEMYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
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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