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Results for the Protein: Q8N3I7
74750959

BBS5_HUMAN RecName: Full=Bardet-Biedl syndrome 5 protein

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 5
  BARDET-BIEDL SYNDROME 5 (BBS5)
5
3
4
0
4
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Default View:

DUF1448 - pfam07289
DM16 - smart00683


Swiss-Prot Protein: Q8N3I7
Identical to: NP_689597
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1448pfam072891.4e-2286340
DM16smart006833.6e-262882
DM16smart006833.7e-32158212

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025317Polymorphismp.ARG207HISN/A
Swiss-ProtVAR_066291Polymorphismp.ASN251ASPN/A
Swiss-ProtVAR_025316Polymorphismp.ASN184SERN/A
Swiss-ProtVAR_066290Diseasep.GLY72SERBardet-Biedl syndrome 5 (BBS5)
OMIM603650.0005 Diseasep.GLY72SERBARDET-BIEDL SYNDROME 5
OMIM603650.0002 Diseasep.LEU142TERBARDET-BIEDL SYNDROME 5
OMIM603650.0006 Diseasep.THR183ALABARDET-BIEDL SYNDROME 5
OMIM603650.0004 Diseasep.TRP59TERBARDET-BIEDL SYNDROME 5



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