Results for the protein: P42357

Results for the Protein: P42357

1170423

3034

HAL

NCBI, UniProt

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

Known Diseases associated with this Protein:
HISTIDINEMIA
HISTIDINEMIA (HISTID)

8

1

4

1

4

Tips:

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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-HAL	cd00332	3.1e-262	119	567
Lyase_I_like	cd01594	3.6e-76	207	553
HutH	COG2986	1.1e-238	111	614
Lyase_aromatic	pfam00221	8e-276	114	597

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_022916	Disease	p.ARG208LEU	Histidinemia (HISTID)
Swiss-Prot	VAR_022918	Disease	p.ARG322PRO	Histidinemia (HISTID)
Swiss-Prot	VAR_022915	Disease	p.ARG206THR	Histidinemia (HISTID)
Swiss-Prot	VAR_022917	Disease	p.PRO259LEU	Histidinemia (HISTID)
dbSNP	rs7297245	Polymorphism	p.VAL439ILE	N/A
OMIM	609457.0002	Disease	p.ARG208LEU	HISTIDINEMIA
OMIM	609457.0004	Disease	p.ARG322PRO	HISTIDINEMIA
OMIM	609457.0001	Disease	p.ARG206THR	HISTIDINEMIA
OMIM	609457.0003	Disease	p.PRO259LEU	HISTIDINEMIA

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