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Results for the Protein: P42357
1170423
HAL

HUTH_HUMAN RecName: Full=Histidine ammonia-lyase; Short=Histidase

Known Diseases associated with this Protein:
  HISTIDINEMIA
  HISTIDINEMIA (HISTID)
8
1
4
1
4
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Default View:

HutH - COG2986
Lyase_aromatic - pfam00221
PAL-HAL - cd00332
Lyase_I_like - cd01594


Swiss-Prot Protein: P42357
Identical to: NP_002099
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PAL-HALcd003323.1e-262119567
Lyase_I_likecd015943.6e-76207553
HutHCOG29861.1e-238111614
Lyase_aromaticpfam002218e-276114597

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022916Diseasep.ARG208LEUHistidinemia (HISTID)
Swiss-ProtVAR_022918Diseasep.ARG322PROHistidinemia (HISTID)
Swiss-ProtVAR_022915Diseasep.ARG206THRHistidinemia (HISTID)
Swiss-ProtVAR_022917Diseasep.PRO259LEUHistidinemia (HISTID)
dbSNPrs7297245 Polymorphismp.VAL439ILEN/A
OMIM609457.0002 Diseasep.ARG208LEUHISTIDINEMIA
OMIM609457.0004 Diseasep.ARG322PROHISTIDINEMIA
OMIM609457.0001 Diseasep.ARG206THRHISTIDINEMIA
OMIM609457.0003 Diseasep.PRO259LEUHISTIDINEMIA



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