IthaID: 873
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 22 GAA>CAA | HGVS Name: | HBB:c.67G>C |
| Hb Name: | Hb D-Iran | Protein Info: | β 22(B4) Glu>Gln |
Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGAT [A/C/G/T] AAGTTGGTGGTGAGGCCCTGGGCAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDQVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70661 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Iranian | Italian | Jamaican | Pakistani |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 269 | Hb D-Iran | β | D-10 | Dual Kit Program | 14.3 | 2.59 | heterozygote | [PDF] | |
| 174 | Hb D-Iran | β | D-10 | Dual Kit Program | 45 | 2.64 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | |
| 270 | Hb D-Iran | β | VARIANT | β-thal Short Program | 38 | 3.56 | Heterozygous. Elutes as HbA2 in CE-HPLC. | [PDF] | |
| 175 | Hb D-Iran | β | VARIANT | β-thal Short Program | 40.3 | 3.55 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | |
| 272 | Hb D-Iran | β | VARIANT II | Dual Kit Program | 39 | 2.71 | Heterozygous. Elutes as HbA2 in CE-HPLC. | [PDF] | |
| 271 | Hb D-Iran | β | VARIANT II | β-thal Short Program | 38.7 | 3.54 | Heterozygous. Elutes as HbA2 in CE-HPLC. | [PDF] | |
| 177 | Hb D-Iran | β | VARIANT II | Dual Kit Program | 40.3 | 2.823 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [PDF] | |
| 176 | Hb D-Iran | β | VARIANT II | β-thal Short Program | 40.4 | 3.56 | Carrier. Clinically normal. Elutes as HbA2 in CE-HPLC. Compound heterozygotes HbS/Hb D-Iran behave clinically as HbA/HbS. | [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
- Rahbar S, Haemoglobin D Iran: 2 22 glutamic acid leads to glutamine (B4)., British journal of haematology, 24(1), 31-5, 1973 PubMed
- Gupta A, Saraf A, Dass J, Mehta M, Radhakrishnan N, Saxena R, Bhargava M, Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy., Indian J Hematol Blood Transfus , 30(0), 409-12, 2014 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2016-09-08 17:38:50 (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 | 2016-09-08 17:38:50 | The IthaGenes Curation Team | Reviewed. Reference added. Confirmed by sequencing. |
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IthaGenes was last updated on 2024-11-20 13:24:07