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Results for the Protein: Q9UQN3
73917746

CHM2B_HUMAN RecName: Full=Charged multivesicular body protein 2b; AltName: Full=CHMP2.5; AltName: Full=Chromatin-modifying protein 2b; Short=CHMP2b; AltName: Full=Vacuolar protein sorting-associated protein 2-2; Short=Vps2-2; Short=hVps2-2

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 17
  AMYOTROPHIC LATERAL SCLEROSIS 17 (ALS17)
  FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
  FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED (FTD3)
  FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED, INCLUDED
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Snf7 - pfam03357


Swiss-Prot Protein: Q9UQN3
Identical to: NP_054762
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023383Diseasep.ASP148TYRFrontotemporal dementia, chromosome 3-linked (FTD3)
Swiss-ProtVAR_038374Diseasep.GLN206HISAmyotrophic lateral sclerosis 17 (ALS17)
Swiss-ProtVAR_038373Diseasep.ILE29VALAmyotrophic lateral sclerosis 17 (ALS17)
Swiss-ProtVAR_068689Diseasep.THR104ASNAmyotrophic lateral sclerosis 17 (ALS17)
OMIM609512.0002 Diseasep.ASP148TYRFRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
OMIM609512.0003 Diseasep.GLN206HISAMYOTROPHIC LATERAL SCLEROSIS 17
OMIM609512.0004 Diseasep.GLN165TERFRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
OMIM609512.0005 Diseasep.ILE29VALAMYOTROPHIC LATERAL SCLEROSIS 17||FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED, INCLUDED
OMIM609512.0006 Diseasep.THR104ASNAMYOTROPHIC LATERAL SCLEROSIS 17



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