IthaID: 3766
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 30 GAG>CAG [Glu>Gln] | HGVS Name: | HBA2:c.91G>C |
| Hb Name: | Hb G-Honolulu | Protein Info: | α2 30(B11) Glu>Gln |
Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G/C] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALQRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in 5 cases presented with Hb range 12.6- 14.2 g/dL, MCV 76.8-89.6 fL, MCH 26.4-29 pg, and RBC 4.92 10^12/L. Capillary electrophoresis shown normal levels of HbA2 (1.8- 1.9 %) with abnormal peak 23.1-23.5% (at Z6) and 0.6% (at Z1), whereas HPLC analysis shown elevated levels of HbA2 of 19.6-23.4% with small peak at S zone (0.8%). The G>C substitution found in both HBA1 and HBA2 genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33866 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Lee TP, Peng CT, Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family., Hemoglobin , 26(3), 325-8, 2002
- Paleari R, Caruso D, Giavarini F, Colzani C, Brunati P, Mosca A, The first case of Hb G-Honolulu [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] observed in association with Hb S [β6(A3)Glu→Val, GAG>GTG] in a healthy Italian child., Hemoglobin , 36(1), 73-9, 2012
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |