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Results for the Protein: NP_065756
89886453

TBC1 domain family member 24 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
  MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
  SEIZURES SYNDROME
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Default View:

TBC - smart00164
RabGAP-TBC - pfam00566
OXR1 - COG5142
TLDc - smart00584
TLD - pfam07534


RefSeq Protein: NP_065756
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
OXR1COG51420.0005303548
TBCsmart001640.000642238
TLDcsmart005843.8e-121336548
TLDpfam075349.3e-21362548

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM613577.0002 Diseasep.ALA503VALMYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
OMIM613577.0007 Diseasep.ARG242CYSDEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND||SEIZURES SYNDROME
OMIM613577.0008 Diseasep.ARG40CYSDEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND||SEIZURES SYNDROME
OMIM613577.0001 Diseasep.ASP147HISMYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
OMIM613577.0006 Diseasep.CYS156TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
OMIM613577.0009 Diseasep.GLN20GLUDEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND||SEIZURES SYNDROME
OMIM613577.0003 Diseasep.PHE251LEUMYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
OMIM613577.0005 Diseasep.PHE229SEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16



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