IthaID: 613
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 75 GAC>CAC [Asp>His] | HGVS Name: | HBA2:c.226G>C |
| Hb Name: | Hb Q-Iran | Protein Info: | α2 75(EF4) Asp>His |
Context nucleotide sequence:
GACCAACGCCGTGGCGCACGTGGAC [G/C] ACATGCCCAACGCGCTGTCCGCCCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDHMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 34118 |
| 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: | Iranian, Turkish, Pakistani |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 359 | Hb Q-Iran | α2 | VARIANT II | β-thal Short Program | 21.2 | 4.85 | heterozygote | [PDF] | |
| 360 | Hb Q-Iran | α2 | VARIANT II | Dual Kit Program | 19.2 | 4.09 | heterozygote | [PDF] |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Lorkin PA, Charlesworth D, Lehmann H, Rahbar S, Tuchinda S, Eng LI, Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine., Br. J. Haematol. , 19(1), 117-25, 1970 PubMed
- Lie-Injo LE, Dozy AM, Kan YW, Lopes M, Todd D, The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia., Blood , 54(6), 1407-16, 1979 PubMed
- Aksoy M, Gurgey A, Altay C, Kilinc Y, Carstairs KC, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH, Some notes about Hb Q-India and Hb Q-Iran., Hemoglobin , 10(2), 215-9, 1986 PubMed
- Khorshidi M, Roshan P, Bayat N, Mahdavi MR, Najmabadi H, Hemoglobin Q-Iran detected in family members from Northern Iran: a case report., J Med Case Rep, 6(0), 47, 2012 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 11:49:53 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-10 09:59:50 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-04-07 11:49:53 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07