1a3o
From Proteopedia
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ARTIFICIAL MUTANT (ALPHA Y42H) OF DEOXY HEMOGLOBIN
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Overview
The structures of deoxy human haemoglobin and an artificial mutant, (Tyralpha42-->His) have been solved at 120 K. While overall agreement, between these structures and others in the PDB is very good, certain side, chains are found to be shifted, absent from the electron-density map or in, different rotamers. Non-crystallographic symmetry (NCS) is very well, obeyed in the native protein, but not around the site of the changed, residue in the mutant. NCS is also not obeyed by the water molecule, invariably found in the alpha-chain haem pocket in room-temperature, crystal structures of haemoglobin. At 120 K, this water molecule, disappears from one alpha chain in the asymmetric unit but not the other.
Disease
Known diseases associated with this structure: Erythremias, alpha- OMIM:[141800], Erythremias, beta- OMIM:[141900], Erythrocytosis OMIM:[141850], HPFH, deletion type OMIM:[141900], Heinz body anemia OMIM:[141850], Heinz body anemias, alpha- OMIM:[141800], Heinz body anemias, beta- OMIM:[141900], Hemoglobin H disease OMIM:[141850], Hypochromic microcytic anemia OMIM:[141850], Methemoglobinemias, alpha- OMIM:[141800], Methemoglobinemias, beta- OMIM:[141900], Sickle cell anemia OMIM:[141900], Thalassemia, alpha- OMIM:[141850], Thalassemia-beta, dominant inclusion-body OMIM:[141900], Thalassemias, alpha- OMIM:[141800], Thalassemias, beta- OMIM:[141900]
About this Structure
1A3O is a Protein complex structure of sequences from Homo sapiens with HEM as ligand. Full crystallographic information is available from OCA.
Reference
The structures of deoxy human haemoglobin and the mutant Hb Tyralpha42His at 120 K., Tame JR, Vallone B, Acta Crystallogr D Biol Crystallogr. 2000 Jul;56(Pt 7):805-11. PMID:10930827
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