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Results for the Protein: NP_001140174
226442963

lysine-specific demethylase 5C isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
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Default View:

JmjN - smart00545
BRIGHT - smart00501
PHD - smart00249
JmjC - smart00558
PLU-1 - pfam08429




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRIGHTsmart005011.6e-1325103
PHDsmart002495.5e-15259304
JmjCsmart005584.4e-19405464
PLU-1pfam084293.9e-1397041033
PHDsmart002496.2e-1111201180

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM314690.0003 Diseasep.ALA321PROMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0007 Diseasep.ALA1THRMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0004 Diseasep.ARG627TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0006 Diseasep.ARG699TRPMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0008 Diseasep.CYS657TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0001 Diseasep.LEU664PHEMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0009 Diseasep.PRO487THRMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
OMIM314690.0005 Diseasep.SER384ARGMENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE



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