IthaID: 3749
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 74 GAC>GGC [Asp>Gly] | HGVS Name: | HBA2:c224A>G |
| Hb Name: | Hb Liangqing | Protein Info: | N/A |
Context nucleotide sequence:
CTGACCAACGCCGTGGCGCACGTGG [A/G] CGACATGCCCAACGCGCTGTCCGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVGDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Chapel Hill
Comments: Found in a heterozygous state in a newborn female twin pair with no clinical presentation. HbX (11.6% and 12.7%) was separated from HbA by capillary electrophoresis. This variant was also found in a heterozygous state in three members of a Chinese family, all asymptomatic [PMID 3693273].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 34116 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Tang B, Wang J, Qin D, Yao C, Chen K, Liang L, Chai H, Guo H, Du L, Hb Chapel Hill or Alpha2 74(EF3) Asp>Gly, a mildly unstable variant found in a Chinese family., Hematology, 28(1), 2187154, 2023
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-02-24 | First report. |
Created on 2021-02-24 17:01:52,
Last reviewed on 2023-04-06 17:06:01 (Show full history)
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