IthaID: 2509
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 16 AAG>GAG [Lys>Glu] | HGVS Name: | HBA1:c.49A>G |
| Hb Name: | HbI | Protein Info: | α1 16(A14) Lys>Glu |
Context nucleotide sequence:
GACCAACGTCAAGGCCGCCTGGGGT [A/C] AGGTCGGCGCGCACGCTGGCGAGTA (Strand: +)
Also known as: Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas
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: | 37628 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Australian, Black, Caucasian, Indian, Japanese, Chinese |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 581 | HbI | α1 | D-10 | Dual Kit Program | 10.4 | 1.36 | heterozygote | [PDF] | |
| 582 | HbI | α1 | VARIANT | β-thal Short Program | 14.8 | 1.39 | heterozygote | [PDF] | |
| 598 | HbI | α1 | VARIANT II | Dual Kit Program | 27.9 | 1.491 | Heterozygote. | [PDF] | |
| 597 | HbI | α1 | VARIANT II | β-thal Short Program | 18.1 | 1.43 | Heterozygote. | [PDF] | |
| 584 | HbI | α1 | VARIANT II | Dual Kit Program | 22.5 | 1.467 | heterozygote | [PDF] | |
| 583 | HbI | α1 | VARIANT II | β-thal Short Program | 14.9 | 1.4 | 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
- Beale D, Lehmann H, Abnormal haemoglobins and the genetic code., Nature , 207(994), 259-61, 1965 PubMed
- Esan GJ, Morgan FJ, O'Donnell JV, Ford S, Bank A, Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu)., J. Clin. Invest. , 49(12), 2218-21, 1970 PubMed
- Fleming PJ, Arnold BJ, Thompson EO, Hughes WG, Morgan L, Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families., Pathology , 10(4), 317-27, 1978 PubMed
- Saito S, Fujita S, Ohta Y, Kobayashi Y, Hemoglobin I (alpha 16(A14) Lys replaced by Glu) and hemoglobin J Iran (beta 77(EF1) His replaced by Asp) discovered in Japanese., Hemoglobin , 6(5), 537-41, 1982 PubMed
- Liebhaber SA, Rappaport EF, Cash FE, Ballas SK, Schwartz E, Surrey S, Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome., Science , 226(4681), 1449-51, 1984 PubMed
- Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
- Lin M, Han ZJ, Wang Q, Zheng L, Wang Y, Yang H, Huang Y, Lin F, Zhan XF, Lin CP, Wu JR, Luo ZY, Liu JB, Yan ZH, Zheng SY, Zheng JK, Lu M, Zhu JJ, Xie LX, Yang LY, Molecular epidemiological survey of hemoglobinopathies in the Wuxi region of Jiangsu Province, eastern China., Hemoglobin, 37(5), 454-66, 2013 PubMed
Created on 2014-06-05 12:34:28,
Last reviewed on 2021-03-11 13:54:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-05 12:34:28 | The IthaGenes Curation Team | Created |
| 2 | 2014-06-05 12:35:33 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 3 | 2021-03-11 13:54:42 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07