IthaID: 609
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 74 GAC>GGC [Asp>Gly] | HGVS Name: | HBA1:c.224A>G |
| Hb Name: | Hb Chapel Hill | Protein Info: | N/A |
Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACGTGG [A/G] CGACATGCCCAACGCGCTGTCCGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVGDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Initially detected in a Caucasian female [PMID 8332] and a Chinese family [PMID 3754243] as an α74 Asp>Gly change in the α1 or α2 gene. This same change was later detected by sequencing in the α1 gene of a person carrying an α1α2 hybrid gene in a triplicated α-globin gene arrangement (α α1α2 α/αα) [PMID 7803274].
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37920 |
| 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: | Caucasian, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Orringer EP, Wilson JB, Huisman TH, Hemoglobin Chapel Hill or alpha2 74 Asp replaced by Gly beta2., FEBS Lett. , 65(3), 297-300, 1976 PubMed
- Hsu L, Lung QF, Tang ZN, Fei YJ, Su CW, Chen SS, Webber BB, Wilson JB, Kutlar F, Huisman TH, Hb Chapel Hill or alpha 274(EF3)Asp----Gly beta 2 observed in a Chinese family in association with beta-thalassemia., Hemoglobin , 10(1), 77-86, 1986 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-04-06 16:45:00 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-10 09:50:46 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-02-24 17:03:22 | The IthaGenes Curation Team | Reviewed. Allele corrected. |
| 5 | 2023-04-06 16:38:21 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 6 | 2023-04-06 16:45:00 | The IthaGenes Curation Team | Reviewed. Text edit |
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IthaGenes was last updated on 2024-11-20 13:24:07