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Results for the Protein: Q14032
74739811
570

BAAT_HUMAN RecName: Full=Bile acid-CoA:amino acid N-acyltransferase; Short=BACAT; Short=BAT; AltName: Full=Glycine N-choloyltransferase; AltName: Full=Long-chain fatty-acyl-CoA hydrolase

Known Diseases associated with this Protein:
  FAMILIAL HYPERCHOLANEMIA (FHCA)
  HYPERCHOLANEMIA, FAMILIAL
2
2
1
2
1
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Default View:

Bile_Hydr_Trans - pfam04775
BAAT_C - pfam08840


Swiss-Prot Protein: Q14032
Identical to: NP_001692, NP_001121082
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BAAT_Cpfam088401.8e-105206412

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1572983 Polymorphismp.ARG20GLNN/A
dbSNPrs41281027 Polymorphismp.ARG201PRON/A
Swiss-ProtVAR_023737Diseasep.MET76VALFamilial hypercholanemia (FHCA)
OMIM602938.0001 Diseasep.MET76VALHYPERCHOLANEMIA, FAMILIAL



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