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Results for the Protein: Q8WWY3
90101442

PRP31_HUMAN RecName: Full=U4/U6 small nuclear ribonucleoprotein Prp31; AltName: Full=Pre-mRNA-processing factor 31; AltName: Full=Serologically defined breast cancer antigen NY-BR-99; AltName: Full=U4/U6 snRNP 61 kDa protein; Short=Protein 61K; Short=hPrp31

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 11
  RETINITIS PIGMENTOSA 11 (RP11)
4
0
2
0
2
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Default View:

SIK1 - COG1498
NOSIC - pfam08060
Nop - pfam01798
Prp31_C - pfam09785


Swiss-Prot Protein: Q8WWY3
Identical to: NP_056444
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SIK1COG14987e-511376
Noppfam017988.6e-59186334
NOSICpfam080601.6e-2693144
Prp31_Cpfam097857.7e-70336465

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025630Diseasep.ALA194GLURetinitis pigmentosa 11 (RP11)
Swiss-ProtVAR_025631Diseasep.ALA216PRORetinitis pigmentosa 11 (RP11)
OMIM606419.0005 Diseasep.ALA194GLURETINITIS PIGMENTOSA 11
OMIM606419.0002 Diseasep.ALA216PRORETINITIS PIGMENTOSA 11



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