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
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
- 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
- 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 2023-04-06 16:45:00 (Show full history)
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