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Results for the Protein: Q8NFJ9
38257662
582

BBS1_HUMAN RecName: Full=Bardet-Biedl syndrome 1 protein; AltName: Full=BBS2-like protein 2

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 1
  BARDET-BIEDL SYNDROME 1 (BBS1)
  BARDET-BIEDL SYNDROME 7
16
4
4
2
14
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Swiss-Prot Protein: Q8NFJ9
Identical to: NP_078925
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038883Diseasep.ARG160GLNBardet-Biedl syndrome 1 (BBS1)
dbSNPrs77298332 Polymorphismp.ARG450GLNN/A
Swiss-ProtVAR_038882Diseasep.ASP148ASNBardet-Biedl syndrome 1 (BBS1)
dbSNPrs35520756 Diseasep.GLU234LYSBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_065554Polymorphismp.GLY559ASPN/A
Swiss-ProtVAR_038884Diseasep.GLY305SERBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_038880Diseasep.HIS35ARGBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_066278Diseasep.ILE330THRBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_038888Diseasep.LEU518GLNBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_038887Diseasep.LEU503HISBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_017217Diseasep.LEU518PROBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_066485Polymorphismp.LEU206VALN/A
Swiss-ProtVAR_038881Diseasep.LYS53GLUBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_017216Diseasep.MET390ARGBardet-Biedl syndrome 1 (BBS1)
Swiss-ProtVAR_066486Polymorphismp.PRO245LEUN/A
Swiss-ProtVAR_038886Diseasep.TYR434SERBardet-Biedl syndrome 1 (BBS1)
OMIM209901.0006 Diseasep.GLU234LYSBARDET-BIEDL SYNDROME 7
OMIM209901.0002 Diseasep.GLU549TERBARDET-BIEDL SYNDROME 1
OMIM209901.0005 Diseasep.LEU518PROBARDET-BIEDL SYNDROME 1
OMIM209901.0001 Diseasep.MET390ARGBARDET-BIEDL SYNDROME 1



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