IthaID: 1307



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 145 TAT>AAT HGVS Name: HBB:c.436T>A
Hb Name: Hb Osler Protein Info: β 145(HC2) Tyr>Asn

Context nucleotide sequence:
TGTGGCTAATGCCCTGGCCCACAAG [A/T] ATCACTAAGCTCGCTTTCTTGCTGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKNH

Also known as:

Comments: Hb Osler (β145 Tyr > Asn, Asp) derives from a posttranslational modification of asparagine (Asn) to aspartic acid (Asp). The unmodified variant Hb (β145Asn) co-migrates with Hb A on electrophoresis and co-elutes with Hb A on HPLC, whereas the deamidated Hb (β145Asp is charged) shows as a band anodic to Hb A. Both forms of Hb Osler together comprise about 60% of the total Hb. Individuals with Hb Osler have very high oxygen affinity (whole blood P50 of 11-12 mm Hg). This variant was mainly associated with erythrocytosis and was found as a heterozygote and as compound heterozygote with βS.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72010
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African American,
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Charache S, Brimhall B, Jones RT, Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp)., The Johns Hopkins medical journal, 136(3), 132-6, 1975 PubMed
  2. Charache S, Achuff S, Winslow R, Adamson J, Chervenick P, Variability of the homeostatic response to altered p50., Blood, 52(6), 1156-62, 1978 PubMed
  3. Butler WM, Spratling L, Kark JA, Schoomaker EB, Hemoglobin Osler: report of a new family with exercise studies before and after phlebotomy., Am J Hematol, 13(4), 293-301, 1982 PubMed
  4. Hutt PJ, Donaldson MH, Khatri J, Fairbanks VF, Hoyer JD, Thibodeau SN, Moxness MS, McMorrow LE, Green MM, Jones RT, Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn., Am J Hematol, 52(4), 305-9, 1996 PubMed
  5. Kattamis AC, Kelly KM, Ohene-Frempong K, Reilly MP, Keller M, Cubeddu R, Adachi K, Surrey S, Fortina P, Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification., Hemoglobin, 21(2), 109-20, 1997 PubMed
  6. Préhu C, Godart C, Vigneron C, Wajcman H, Hb Nancy and Hb Osler: two distinct genetic variants with identical clinical and hemoglobin phenotype., C R Acad Sci III, 321(5), 373-6, 1998 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-31 17:48:44 (Show full history)

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