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Results for the Protein: Q86X45
134047813

TILB_HUMAN RecName: Full=Protein tilB homolog; AltName: Full=Leucine-rich repeat-containing protein 6; AltName: Full=Leucine-rich testis-specific protein; AltName: Full=Testis-specific leucine-rich repeat protein

Known Diseases associated with this Protein:
  CILIARY DYSKINESIA, PRIMARY, 19
  CILIARY DYSKINESIA, PRIMARY, 19 (CILD19)
6
2
4
2
2
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LRRcap - smart00446


Swiss-Prot Protein: Q86X45
Identical to: NP_036604
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRRcapsmart004469.8e-07128146

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069038Diseasep.ALA74PROCiliary dyskinesia, primary, 19 (CILD19)
Swiss-ProtVAR_069039Diseasep.ASP146HISCiliary dyskinesia, primary, 19 (CILD19)
dbSNPrs9297853 Polymorphismp.ILE466THRN/A
dbSNPrs2293979 Polymorphismp.THR232ILEN/A
OMIM614930.0004 Diseasep.ALA74PROCILIARY DYSKINESIA, PRIMARY, 19
OMIM614930.0005 Diseasep.ASP146HISCILIARY DYSKINESIA, PRIMARY, 19
OMIM614930.0007 Diseasep.GLN188TERCILIARY DYSKINESIA, PRIMARY, 19
OMIM614930.0002 Diseasep.GLN192TERCILIARY DYSKINESIA, PRIMARY, 19



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