IthaID: 764
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 136 CTG>ATG [Leu>Met] | HGVS Name: | HBA2:c.409C>A |
| Hb Name: | Hb Chicago | Protein Info: | α2 136(H19) Leu>Met |
Context nucleotide sequence:
GTTCCTGGCTTCTGTGAGCACCGTG [C/A] TGACCTCCAAATACCGTTAAGCTGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVMTSKYR
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: | 34443 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 190 | Hb Chicago | α2 | D-10 | Dual Kit Program | 82.3 | 1.69 | Heterozygous. Elutes as HbA. | [PDF] | |
| 191 | Hb Chicago | α2 | VARIANT | β-thal Short Program | 84 | 2.47 | Heterozygous. Elutes as HbA. | [PDF] | |
| 192 | Hb Chicago | α2 | VARIANT II | β-thal Short Program | 85 | 2.5 | Heterozygous. Elutes as HbA. | [PDF] | |
| 193 | Hb Chicago | α2 | VARIANT II | Dual Kit Program | 82.3 | 1.767 | Heterozygous. Elutes as HbA. | [PDF] | |
| 194 | Hb Chicago | α2 | VARIANT II | Dual Kit Program | 82.3 | 1.767 | Heterozygous. Elutes as HbA. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Bowman JE, Bloom R, Chen SS, Webber BB, Wilson JB, Kutlar F, Kutlar A, Huisman TH, HB Chicago or alpha (2)136 (H19) Leu----Met beta 2 and a -G gamma-G gamma-globin gene arrangement in a black family., Hemoglobin , 10(5), 495-505, 1986
- Gu LH, Wilson JB, Molchanova TP, McKie KM, McKie VC, Huisman TH, Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications., Hemoglobin , 17(4), 295-301, 1993
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-01-30 09:53:06 (Show full history)
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