IthaID: 1030



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 69 GGT>AGT HGVS Name: HBB:c.208G>A
Hb Name: Hb City of Hope Protein Info: β 69(E13) Gly>Ser

Context nucleotide sequence:
GAAGGCTCATGGCAAGAAAGTGCTC [A/C/G] GTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLSAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70932
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian, Italian, Jewish, Turkish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

Publications / Origin

  1. Rahbar S, Asmerom Y, Blume KG, A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser., Hemoglobin , 8(4), 333-42, 1984 PubMed
  2. Kutlar A, Kutlar F, Aksoy M, Gurgey A, Altay C, Wilson JB, Diaz-Chico JC, Hu H, Huisman TH, Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia., Hemoglobin, 13(1), 7-16, 1989 PubMed
  3. De Angioletti M, Maglione G, Ferranti P, de Bonis C, Lacerra G, Scarallo A, Pagano L, Fioretti G, Cutolo R, Malorni A, Hb City of Hope [beta 69(E13)Gly----Ser] in Italy: association of the gene with haplotype IX., Hemoglobin , 16(1), 27-34, 1992 PubMed
  4. Paradisi I, González N, Hernández A, Arias S, Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia., Invest Clin , 51(3), 403-14, 2010 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2015-07-20 13:23:49 (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.

Please publish modules in offcanvas position.