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Results for the Protein: P52788
8247960
SMS

SPSY_HUMAN RecName: Full=Spermine synthase; Short=SPMSY; AltName: Full=Spermidine aminopropyltransferase

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

SpeE - COG0421
Spermine_synth - pfam01564
AdoMet_MTases - cd02440


Swiss-Prot Protein: P52788
Identical to: NP_004586
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SpeECOG04213.7e-06105366
AdoMet_MTasescd024402.6e-14193360
Spermine_synthpfam015645.5e-112109366

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300105.0002 Diseasep.GLY56SERMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
OMIM300105.0005 Diseasep.GLY67TERMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
OMIM300105.0004 Diseasep.TYR328CYSMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
OMIM300105.0003 Diseasep.VAL132GLYMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE



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