IthaID: 3015
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 63 GCC>ACC [Ala>Thr] | HGVS Name: | HBA1:c.190G>A |
| Hb Name: | Hb Greenville-NC | Protein Info: | α1 63(E12) Ala>Thr |
Context nucleotide sequence:
GTTAAGGGCCACGGCAAGAAGGTG [G>A] CCGACGCGCTGACCAACGCCGTGGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVTDALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported in a pregnant 16 year old African American female with mild anemia, normocytic and normochromic red blood cells and increased red blood cell distribution width (RDW). Hb A, A2, S and two unknown alpha Hb variants were detected by HPLC and acid gel electrophoresis. Proband was heterozygous for c.190G>A in HBA1 (Hb Greenville-NC), c.146T>G in HBA2 (Hb Montgomery), and c.20A>T in HBB (Hb S). Relative percentages by mass spectrometry of different Hbs: Hb Greenville-NC 19%, Hb Montgomery 18%, and Hb S 40%. Proband's mother had a history of sickle cell trait and her father's hemoglobinopathy status was unknown. Source: 69th AACC Annual Scientific Meeting Abstract eBook, Abstract A-328, "Hemoglobin Greenville-North Carolina: A Novel Hemoglobinopathy Diagnosed At East Carolina University/Vidant Medical Center" by A. Thombare et al, https://www.myadlm.org/-/media/Files/Meetings-and-Events/Annual-Meeting/2017/AACC17_AbstractBookComplete_ClinChemV63S10.pdf?la
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 37886 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African-American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-24 12:18:55 | The IthaGenes Curation Team | Created |
| 2 | 2024-04-24 11:43:02 | The IthaGenes Curation Team | Reviewed. Comment added |