IthaID: 1022



Names and Sequences

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

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

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKDLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Bristol-Alesha

Comments: Met is changed to Asp by post-translational modification.

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:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
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: Argentinean, English
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Rees DC, Rochette J, Schofield C, Green B, Morris M, Parker NE, Sasaki H, Tanaka A, Ohba Y, Clegg JB, A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp)., Blood, 88(1), 341-8, 1996 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
Created on 2010-06-16 16:13:16, Last reviewed on 2014-08-22 11:07:44 (Show full history)

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