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Results for the Protein: Q8WYR4
21542279

RSPH1_HUMAN RecName: Full=Radial spoke head 1 homolog; AltName: Full=Cancer/testis antigen 79; Short=CT79; AltName: Full=Male meiotic metaphase chromosome-associated acidic protein; AltName: Full=Meichroacidin; AltName: Full=Testis-specific gene A2 protein

Known Diseases associated with this Protein:
  CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
2
1
2
1
0
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Default View:

COG4642 - COG4642
MORN - smart00698
MORN - pfam02493


Swiss-Prot Protein: Q8WYR4
Identical to: NP_543136
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4642COG46429e-0634172
MORNpfam024934.5e-074466
MORNpfam024935.7e-096789
MORNpfam024932.5e-0890112
MORNpfam024930.00013113135
MORNsmart006983.9e-074263
MORNsmart006984.4e-096586
MORNsmart006981.9e-0988109
MORNsmart006986.8e-08111132

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs117385282 Polymorphismp.GLY248ARGN/A
OMIM609314.0001 Diseasep.GLU29TERCILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
OMIM609314.0005 Diseasep.GLY103ASPCILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS



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