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Results for the Protein: NP_001245352
386643030
SMS

spermine synthase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
3
0
3
0
0
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Default View:

SpeE - COG0421
Spermine_synth - pfam01564
AdoMet_MTases - cd02440




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AdoMet_MTasescd024402.6e-14140307
Spermine_synthpfam015643.6e-11256313

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300105.0002 Diseasep.GLY56SERMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
OMIM300105.0004 Diseasep.TYR275CYSMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
OMIM300105.0003 Diseasep.VAL79GLYMENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE



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