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
Publications / Origin
- Rahbar S, Haemoglobin D Iran: 2 22 glutamic acid leads to glutamine (B4)., British journal of haematology, 24(1), 31-5, 1973
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2016-09-08 17:38:50 (Show full history)
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