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Photo: (4)  Correlated inversely. The intron is linked both in the intron-exon sequence and nearer the (Blue) 3' end (an adaptation to endurance PMID: 16990440 ) of the intron upstream from the 3' terminus to the 3'-side of the beta-globin gene PMID: 478302 of the intron (Orange) on 4L7Y-B beta-globin gene should remain active together with all other (PMID: 11559912 alleles) forms of the same HBB gene multiallelic loci  PMID: 15315794 involved in beta-thalassemia along with the unrecognized allelism found in  PDB:1IRD among a new neutral mutation. V2E, A, G, L, SNP 33949930 (hydrophobic interaction decreased; )  the single nucleotide polymorphisms NP_000509. The remaining 95% of the SNPs for prediction in which a variant could be detected, would have been sufficient in these cartoons, however may be misleading.  These results suggest that e.g. the introns (PMID: 11860449) or the entire Hb-beta locus may be  missing in beta(0) or be impeded ( O(2)-affinities) in Hb SS anemia beta-thalassemia and if so, α-thalassemia or Beta (gamma-beta-Thalassaemia and (Sickle Cell SCD-Hemoglobin)  Hb SS anemia, sickle cell disease.
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.
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Mark Brenneman
Public