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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GAAGGCTCATGGCAAGAAAGTGCTC [A/C/G] GTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLSAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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 |
Location
| 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 |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 16:37:05 (Show full history)
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