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Results for the Protein: P16930
119778
FAH

FAAA_HUMAN RecName: Full=Fumarylacetoacetase; Short=FAA; AltName: Full=Beta-diketonase; AltName: Full=Fumarylacetoacetate hydrolase

Known Diseases associated with this Protein:
  FUMARYLACETOACETASE PSEUDODEFICIENCY
  TYROSINEMIA 1 (TYRO1)
  TYROSINEMIA, TYPE I
30
0
9
0
21
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DUF1969 - pfam09298


Swiss-Prot Protein: P16930
Identical to: NP_000128
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1969pfam092982.1e-5115118

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005208Diseasep.ALA134ASPTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_065454Diseasep.ALA35THRTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005223Diseasep.ARG381GLYTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005219Diseasep.ARG341TRPTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005205Diseasep.ASN16ILETyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005213Diseasep.ASP233VALTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005211Diseasep.CYS193ARGTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_065455Diseasep.GLN279ARGTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005207Diseasep.GLN64HISTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005209Diseasep.GLY158ASPTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005212Diseasep.GLY207ASPTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005218Diseasep.GLY337SERTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005222Diseasep.GLY369VALTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005206Diseasep.PHE62CYSTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005224Diseasep.PHE405HISTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005216Diseasep.PRO261LEUTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005220Diseasep.PRO342LEUTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005215Diseasep.PRO249THRTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005217Diseasep.THR294PROTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005214Diseasep.TRP234GLYTyrosinemia 1 (TYRO1)
Swiss-ProtVAR_005210Diseasep.VAL166GLYTyrosinemia 1 (TYRO1)
OMIM613871.0002 Diseasep.ALA134ASPTYROSINEMIA, TYPE I
OMIM613871.0008 Diseasep.ARG381GLYTYROSINEMIA, TYPE I
OMIM613871.0006 Diseasep.ARG341TRPFUMARYLACETOACETASE PSEUDODEFICIENCY
OMIM613871.0001 Diseasep.ASN16ILETYROSINEMIA, TYPE I
OMIM613871.0011 Diseasep.GLN279ARGTYROSINEMIA, TYPE I
OMIM613871.0007 Diseasep.GLU337SERTYROSINEMIA, TYPE I
OMIM613871.0004 Diseasep.GLU357TERTYROSINEMIA, TYPE I
OMIM613871.0005 Diseasep.GLU364TERTYROSINEMIA, TYPE I
OMIM613871.0009 Diseasep.TRP262TERTYROSINEMIA, TYPE I



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