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Results for the Protein: Q96RK4
160359000
585

BBS4_HUMAN RecName: Full=Bardet-Biedl syndrome 4 protein

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 4
  BARDET-BIEDL SYNDROME 4 (BBS4)
11
7
2
1
15
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Default View:

NrfG - COG0457
TPR_2 - pfam07719
TPR - cd00189
TPR_1 - pfam00515
TPR - smart00028


Swiss-Prot Protein: Q96RK4
Identical to: NP_149017
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TPRcd001895.4e-20102200
TPRcd001891.9e-13203302
TPRcd001895.2e-12305404
TPR_1pfam005157.1e-05202235
TPR_1pfam005150.00039270303
TPR_2pfam077190.00071101134
TPR_2pfam077190.00077135168
TPR_2pfam077190.00091169201
TPR_2pfam077199.8e-05202235
TPRsmart000286.1e-05202235
TPRsmart000280.001304337

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017051Diseasep.ALA364GLUBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_028723Polymorphismp.ALA393VALN/A
Swiss-ProtVAR_013170Diseasep.ARG295PROBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_017049Diseasep.ASN165HISBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_038896Diseasep.ASP368GLYBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_066288Polymorphismp.GLU412ASPN/A
Swiss-ProtVAR_028722Polymorphismp.GLU268LYSN/A
Swiss-ProtVAR_066287Polymorphismp.GLU61LYSN/A
dbSNPrs2277598 Polymorphismp.ILE354THRN/A
Swiss-ProtVAR_038895Diseasep.LEU351ARGBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_017050Diseasep.LEU327PROBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_038894Polymorphismp.LYS46ARGN/A
Swiss-ProtVAR_017053Diseasep.MET472VALBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_038897Diseasep.PRO503LEUBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_017052Diseasep.SER457ILEBardet-Biedl syndrome 4 (BBS4)
Swiss-ProtVAR_066289Polymorphismp.THR488LYSN/A
OMIM600374.0004 Diseasep.ALA364GLUBARDET-BIEDL SYNDROME 4
OMIM600374.0001 Diseasep.ARG295PROBARDET-BIEDL SYNDROME 4



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