IthaID: 669


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 92 CGG>CTG [Arg>Leu] HGVS Name: HBA2:c.278G>T
Hb Name: Hb Chesapeake Protein Info: α2 92(FG4) Arg>Leu

Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [G/T] GGTGGACCCGGTCAACTTCAAGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLLVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34170
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: German, Irish, Japanese, French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Clegg JB, Naughton MA, Weatherball DJ, Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok)., Journal of molecular biology, 19(1), 91-108, 1966
  2. Charache S, Weatherall DJ, Clegg JB, Polycythemia associated with a hemoglobinopathy., J. Clin. Invest. , 45(6), 813-22, 1966
  3. Greer J, Three-dimensional structure of abnormal human haemoglobins Chesapeake and J Capetown., J. Mol. Biol. , 62(1), 241-9, 1971
  4. Gibson QH, Nagel RL, Allosteric transition and ligand binding in hemoglobin Chesapeake., J. Biol. Chem. , 249(22), 7255-9, 1974
  5. Imai K, Hemoglobin Chesapeake (92 alpha, arginine--leucine). Precise measurements and analyses of oxygen equilibrium., J. Biol. Chem. , 249(23), 7607-12, 1974
  6. Jones CM, Charache S, Hathaway PJ, The effect of hemoglobin F-Chesapeake (alpha 2 92 Arg. leads to Leu gamma 2) on fetal oxygen affinity and erythropoiesis., Pediatr. Res. , 13(7), 851-3, 1979
  7. Harano T, Harano K, Shibata S, Ueda S, Mori H, Imai K, Hb Chesapeake [alpha 92 (FG 4) Arg replaced by Leu] and Hb J Cape Town [alpha 92 (FG 4) Arg leads to Gln] first discovered in Japanese., Hemoglobin , 7(5), 461-5, 1983
  8. Granel B, Serratrice J, Badens C, Lena-Russo D, Disdier P, Weiller PJ, A new case of hemoglobin Chesapeake., Haematologica , 86(1), 105, 2001
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:11:22 (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.