IthaID: 1030

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
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:

Protein sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70932
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: Caucasian, Italian, Jewish, Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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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 2021-03-11 16:37:05 (Show full history)

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