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Results for the Protein: Q5T2S8
74744660

ARMC4_HUMAN RecName: Full=Armadillo repeat-containing protein 4

Known Diseases associated with this Protein:
  CILIARY DYSKINESIA, PRIMARY, 23
  CILIARY DYSKINESIA, PRIMARY, 23 (CILD23)
3
7
2
6
2
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Default View:

ARM - cd00020
ARM - smart00185
Arm - pfam00514


Swiss-Prot Protein: Q5T2S8
Identical to: NP_060546
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARMcd000202.3e-13488620
ARMcd000205.5e-16626744
ARMcd000201.8e-10791910
ARMcd000202.4e-119151033
Armpfam005141.2e-05524564
Armpfam005143.7e-06621661
Armpfam005143.1e-069931033
ARMsmart001851.9e-06524564
ARMsmart001853.1e-05621661
ARMsmart001857.6e-069931033

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3737184 Polymorphismp.ALA1041SERN/A
dbSNPrs35242712 Polymorphismp.ARG787CYSN/A
dbSNPrs199740026 Polymorphismp.ARG413GLNN/A
dbSNPrs35472668 Polymorphismp.ARG666GLNN/A
dbSNPrs149372312 Polymorphismp.ARG413GLYN/A
Swiss-ProtVAR_033514Polymorphismp.ASN935LYSN/A
dbSNPrs4405206 Polymorphismp.ILE343THRN/A
Swiss-ProtVAR_070228Diseasep.LEU927TRPCiliary dyskinesia, primary, 23 (CILD23)
OMIM615408.0002 Diseasep.LEU927TRPCILIARY DYSKINESIA, PRIMARY, 23
OMIM615408.0004 Diseasep.SER892TERCILIARY DYSKINESIA, PRIMARY, 23



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