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Results for the Protein: Q15029
18202501

U5S1_HUMAN RecName: Full=116 kDa U5 small nuclear ribonucleoprotein component; AltName: Full=Elongation factor Tu GTP-binding domain-containing protein 2; AltName: Full=SNU114 homolog; Short=hSNU114; AltName: Full=U5 snRNP-specific protein, 116 kDa; Short=U5-116 kDa

Known Diseases associated with this Protein:
  MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY (MFDM)
  MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
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1
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EFG_C - smart00838


Swiss-Prot Protein: Q15029
Identical to: NP_004238
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EFG_Csmart008388.5e-21827913

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067580Diseasep.ARG262TRPMandibulofacial dysostosis with microcephaly (MFDM)
Swiss-ProtVAR_067581Diseasep.CYS476ARGMandibulofacial dysostosis with microcephaly (MFDM)
Swiss-ProtVAR_014931Polymorphismp.GLY773VALN/A
Swiss-ProtVAR_067582Diseasep.LEU637ARGMandibulofacial dysostosis with microcephaly (MFDM)
OMIM603892.0001 Diseasep.ARG262TRPMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
OMIM603892.0002 Diseasep.GLN924TERMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
OMIM603892.0007 Diseasep.HIS208ARGMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
OMIM603892.0005 Diseasep.LEU637ARGMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
OMIM603892.0004 Diseasep.TYR831TERMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
OMIM603892.0006 Diseasep.TYR832TERMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE



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