IthaID: 533
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 44 CCG>CTG [Pro>Leu] | HGVS Name: | HBA2:c.134C>T |
| Hb Name: | Hb Milledgeville | Protein Info: | α2 44(CE2) Pro>Leu |
Context nucleotide sequence:
TTCCCCACCACCAAGACCTACTTCC [C/T] GCACTTCGACCTGAGCCACGGCTCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFLHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34026 |
| 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: | African, French |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 216 | Hb Milledgeville | α2 | D-10 | Dual Kit Program | 5.8 | 1.44 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | |
| 217 | Hb Milledgeville | α2 | VARIANT | β-thal Short Program | 18.4 | 2.19 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | |
| 218 | Hb Milledgeville | α2 | VARIANT II | β-thal Short Program | 22.3 | 2.26 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] | |
| 219 | Hb Milledgeville | α2 | VARIANT II | Dual Kit Program | 84.1 | 1.82 | Heterozygous. Increased oxygen affinity leading to a mild erythrocytosis. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Honig GR, Vida LN, Shamsuddin M, Mason RG, Schlumpf HW, Luke RA, Hemoglobin Milledgeville (alpha 44 (CD2) Pro leads to Leu): a new variant with increased oxygen affinity., Biochim. Biophys. Acta , 626(2), 424-31, 1980
- Hanss M, Lacan P, Aubry M, Lienhard A, Francina A, Thrombotic events in compound heterozygotes for a high affinity hemoglobin variant: Hb Milledgeville [alpha44(CE2)Pro-->Leu (alpha2)] and factor V Leiden., Hemoglobin , 26(3), 285-90, 2002
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 10:13:31 (Show full history)
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