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Results for the Protein: Q6P2Q9
67460824

PRP8_HUMAN RecName: Full=Pre-mRNA-processing-splicing factor 8; AltName: Full=220 kDa U5 snRNP-specific protein; AltName: Full=PRP8 homolog; AltName: Full=Splicing factor Prp8; AltName: Full=p220

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 13
  RETINITIS PIGMENTOSA 13 (RP13)
15
4
7
0
12
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Default View:

PRP8 - COG5178
PRO8NT - pfam08082
PROCN - pfam08083
RRM_4 - pfam10598
U5_2-snRNA_bdg - pfam10597
U6-snRNA_bdg - pfam10596
PRP8_domainIV - pfam12134
MPN_PRP8 - cd08056
JAB_MPN - smart00232
JAB - pfam01398
MPN - cd07767
PROCT - pfam08084


Swiss-Prot Protein: Q6P2Q9
Identical to: NP_006436
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MPN_PRP8cd080562.5e-20620672317
MPNcd077672.9e-3421112228
PRP8COG517812335
JABpfam013985.7e-2821002205
PRO8NTpfam080828.6e-12058209
PROCNpfam08083393801
RRM_4pfam105981.5e-729861079
U5_2-snRNA_bdgpfam105979.7e-10912081343
U6-snRNA_bdgpfam105962.5e-13514421601
PRP8_domainIVpfam121341.5e-19717601990
JAB_MPNsmart002321.2e-3320992233
PROCTpfam080848.4e-7722112319

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022630Diseasep.ARG2310GLYRetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022623Polymorphismp.ARG227HISN/A
Swiss-ProtVAR_022631Diseasep.ARG2310LYSRetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022625Polymorphismp.ASN1293HISN/A
Swiss-ProtVAR_022629Diseasep.HIS2309ARGRetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022628Diseasep.HIS2309PRORetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022622Polymorphismp.LYS68GLUN/A
Swiss-ProtVAR_022627Diseasep.PHE2304LEURetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022632Diseasep.PHE2314LEURetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022624Polymorphismp.PRO874LEUN/A
Swiss-ProtVAR_022626Diseasep.PRO2301THRRetinitis pigmentosa 13 (RP13)
Swiss-ProtVAR_022633Diseasep.TYR2334ASNRetinitis pigmentosa 13 (RP13)
OMIM607300.0003 Diseasep.ARG2310LYSRETINITIS PIGMENTOSA 13
OMIM607300.0007 Diseasep.ARG2310SERRETINITIS PIGMENTOSA 13
OMIM607300.0001 Diseasep.HIS2309ARGRETINITIS PIGMENTOSA 13
OMIM607300.0002 Diseasep.HIS2309PRORETINITIS PIGMENTOSA 13
OMIM607300.0005 Diseasep.PHE2304LEURETINITIS PIGMENTOSA 13
OMIM607300.0004 Diseasep.PRO2301THRRETINITIS PIGMENTOSA 13
OMIM607300.0006 Diseasep.SER2118PHERETINITIS PIGMENTOSA 13



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