Photo: (2)  behaviour of a natural haemoglobin and a mutant variant in the central cavity close to the 2,3-diphosphoglycerate pocket  4L7Y-D a band migrating in the Hb F dynamic-position-PDB: rasmol_php (DiseaseE6K_33930165_F_[solvent-nonbonded spheres] 4L7Y-D ) and its reactions with 2,3-DPG and inositol hexaphosphate-PMID: 6526653: accounts for the reduced oxygen affinity of haemoglobin;  by the oppositely charged side-chains residue that project into or are missing in the heme pocket, and result in a thalassemic and/or hemolytic -like phenotype the result of decreased alpha 1 beta 1 interactions.
Photo: (3) 4L7Y-B inhibits the rate of ligand binding HIS'147 the native imidazole side chain is 4L7Y-D modification at each site is a function of the position of these 2 hemoglobin alpha and beta introns the electrostatic attraction or repulsion by the oppositely charged side-chains therefore the efficiencies of intron 1, PMID: 6599969 and intron 2, PMID: 16184579 are unaffected residue near the 3' end (Blue color) (4L7Y_B/B/LEU'3/CA) of the intron on a mechanism that measures the distance, the first intron might facilitate splicing (aligned as B-D, B-D) of the second intron (Orange) 4L7Y and desease HBB locus gene in which intron 1 PMID: 18266765 accommodates the 5' end (Orange). Introns are not present in the final HBB gene product mature RNA with SNP: rs33949930, amplified from exon (Blue) 1 + 2 (PMID: 8226093) of the beta-globin gene: NG_000007.3, (a neutral mutation [ SNP: rs33949930 Position 70599 http://tinyurl.com/nhut5yf ]). Present in SNP to nucleotide allele T.
Photo: (1)  the "hinge region" of the alpha 1 beta 2 interface PMID: 1567857 were partitioned into components of ( PDB:1J7Y_colored in reds is Hb-alpha ) SNP PDB:1IRD HBA1 and 2 structure rearrangement,  the interface from the mutation site is site (B) about protein sequence 4L7Y-B alpha and D-beta: Results are for rs33930165 on Reference Sequence: NP_000509.1 [PMID: 22028795] attainment number P68871 verified by refinement of the a entire  molecule was confined to residues at the central cavity close to the 2,3-DPG found in the NP_000509.1  hemoglobin (PDB: 4L7Y) subunit beta. 1J7Y_reds Hb-alpha,_Blues Hb-beta. With The effect of mutagenesis on O(2), CO, and NO binding to mutants 1J7Y HBB.H116R_D test Disease Gene: HBB  protein/NP_000509.1 structure arrangement. The alpha (HBA) and beta (HBB) loci determine the structure resolution analysis reported here implies...  the structure of genes is
coincidental of site mutants that are turned on and off ( H3 acetylation-(H4/R3* in the R state having T/R** low and high O(2)-affinities)-K4 demethylation) the mechanism is  more complex as development proceeds) e.g.  not present in the final mature HBB gene product.
Photo:
Photo: HBB Network visualized with Cytoscape. The inverse of the inverse not inferable from Figure (4) overlaps the hinge region for exon selection 3'5'duplications.
 pubmed/21269460 [#35]
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039570/figure/F2/
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Mark Brenneman
Public
(1)  the "hinge region" of the alpha 1 beta 2 interface PMID: 1567857 were partitioned into components of ( PDB:1J7Y_colored in reds is Hb-alpha ) SNP PDB:1IRD HBA1 and 2 structure rearrangement,  the interface from the mutation site is site (B) about protein sequence 4L7Y-B alpha and D-beta: Results are for rs33930165 on Reference Sequence: NP_000509.1 [PMID: 22028795] attainment number P68871 verified by refinement of the a entire  molecule was confined to residues at the central cavity close to the 2,3-DPG found in the NP_000509.1  hemoglobin (PDB: 4L7Y) subunit beta. 1J7Y_reds Hb-alpha,_Blues Hb-beta. With The effect of mutagenesis on O(2), CO, and NO binding to mutants 1J7Y HBB.H116R_D test Disease Gene: HBB  protein/NP_000509.1 structure arrangement. The alpha (HBA) and beta (HBB) loci determine the structure resolution analysis reported here implies...  the structure of genes is
coincidental of site mutants that are turned on and off ( H3 acetylation-(H4/R3* in the R state having T/R** low and high O(2)-affinities)-K4 demethylation) the mechanism is  more complex as development proceeds) e.g.  not present in the final mature HBB gene product.