IthaID: 1021



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 67 GTG>ATG [Val>Met] HGVS Name: HBB:c.202G>A
Hb Name: Hb Alesha Protein Info: β 67(E11) Val>Met

Context nucleotide sequence:
TAAGGTGAAGGCTCATGGCAAGAAA [A/G] TGCTCGGTGCCTTTAGTGATGGCCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKMLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Bristol-Alesha

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70926
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Thalassaemia dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Russian, mixed Indian European
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Molchanova TP, Postnikov YuV , Pobedimskaya DD, Smetanina NS, Moschan AA, Kazanetz EG, Tokarev YuN , Huisman TH, Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA., Hemoglobin, 17(3), 217-25, 1993 PubMed
  2. Kano G, Morimoto A, Hibi S, Tokuda C, Todo S, Sugimoto T, Harano T, Miyazaki A, Shimizu A, Imashuku S, Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy., International journal of hematology, 80(5), 410-5, 2004 PubMed
  3. Pedroso GA, Kimura EM, Santos MNN, Albuquerque DM, Ferruzzi JLH, Jorge SE, Costa FF, Saad STO, Sonati MF, Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia., Hemoglobin , 41(3), 203-208, 2017 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-12-13 18:07:06 (Show full history)

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