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Results for the Protein: Q8TE73
116241343

DYH5_HUMAN RecName: Full=Dynein heavy chain 5, axonemal; AltName: Full=Axonemal beta dynein heavy chain 5; AltName: Full=Ciliary dynein heavy chain 5

Known Diseases associated with this Protein:
  CILIARY DYSKINESIA, PRIMARY, 3
  CILIARY DYSKINESIA, PRIMARY, 3 (CILD3)
  KARTAGENER SYNDROME (KTGS)
13
21
4
18
12
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Default View:

DHC_N1 - pfam08385
DHC_N2 - pfam08393
AAA_5 - pfam07728
Dynein_heavy - pfam03028


Swiss-Prot Protein: Q8TE73
Identical to: NP_001360
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Dynein_heavypfam030288e-25039274622
DHC_N1pfam083851.8e-209246804
DHC_N2pfam083935.8e-16514001812
AAA_5pfam077281.2e-0522572393
AAA_5pfam077280.0003825852724

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs30168 Polymorphismp.ALA4134VALN/A
dbSNPrs35900306 Polymorphismp.ARG2425HISN/A
Swiss-ProtVAR_030705Diseasep.ARG1716LEUCiliary dyskinesia, primary, 3 (CILD3)
Swiss-ProtVAR_030708Diseasep.ARG2501PROCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs10078391 Polymorphismp.GLN2463ARGN/A
Swiss-ProtVAR_053842Polymorphismp.GLN620LYSN/A
Swiss-ProtVAR_030707Diseasep.GLU2347LYSCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs76229167 Polymorphismp.GLU895LYSN/A
Swiss-ProtVAR_019608Diseasep.GLY3519ARGKartagener syndrome (KTGS)
dbSNPrs1530496 Polymorphismp.GLY24GLUN/A
Swiss-ProtVAR_030712Diseasep.GLY4205VALCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs339445 Polymorphismp.HIS12GLNN/A
dbSNPrs4701997 Polymorphismp.ILE766LEUN/A
dbSNPrs3734110 Polymorphismp.ILE4450VALN/A
dbSNPrs35090077 Polymorphismp.LEU591ARGN/A
dbSNPrs10513155 Polymorphismp.LEU2862PHEN/A
Swiss-ProtVAR_053841Polymorphismp.LEU591VALN/A
Swiss-ProtVAR_053843Polymorphismp.LYS765ASNN/A
dbSNPrs16902880 Polymorphismp.MET1081VALN/A
Swiss-ProtVAR_030709Diseasep.PHE2843SERCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs113425437 Polymorphismp.PRO4488THRN/A
Swiss-ProtVAR_030706Diseasep.SER2264ASNCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs16902886 Polymorphismp.SER1006GLYN/A
Swiss-ProtVAR_030711Diseasep.SER3843LEUCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs2277046 Polymorphismp.THR4220ALAN/A
dbSNPrs61742104 Polymorphismp.THR4518ALAN/A
dbSNPrs1530498 Polymorphismp.THR558ALAN/A
dbSNPrs17263496 Polymorphismp.THR3791ILEN/A
Swiss-ProtVAR_030710Diseasep.TRP3409SERCiliary dyskinesia, primary, 3 (CILD3)
dbSNPrs115075057 Polymorphismp.TYR4308CYSN/A
OMIM603335.0004 Diseasep.GLN610TERCILIARY DYSKINESIA, PRIMARY, 3
OMIM603335.0009 Diseasep.GLY1047ARGCILIARY DYSKINESIA, PRIMARY, 3
OMIM603335.0002 Diseasep.GLY3519ARGCILIARY DYSKINESIA, PRIMARY, 3
OMIM603335.0008 Diseasep.ILE374THRCILIARY DYSKINESIA, PRIMARY, 3



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