IthaID: 1022


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
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

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]

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Argentinean, English
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

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
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2014-08-22 11:07:44 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.