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Results for the Protein: Q15427
2500587

SF3B4_HUMAN RecName: Full=Splicing factor 3B subunit 4; AltName: Full=Pre-mRNA-splicing factor SF3b 49 kDa subunit; AltName: Full=SF3b50; AltName: Full=Spliceosome-associated protein 49; Short=SAP 49

Known Diseases associated with this Protein:
  ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
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Default View:

- smart00362
RRM - smart00360


Swiss-Prot Protein: Q15427
Identical to: NP_005841
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RRMsmart003601.9e-241787
smart003622e-27101175
RRMsmart003606e-25104175

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605593.0005 Diseasep.ARG336TERACROFACIAL DYSOSTOSIS 1, NAGER TYPE



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