IthaID: 3748
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 124 TCC>ACC [Ser>Thr] | HGVS Name: | HBA2:c.373T>A |
| Hb Name: | Hb Huadu | Protein Info: | α2 124(H7) Ser>Thr |
Context nucleotide sequence:
CGAGTTCACCCCTGCGGTGCACGCC [T/A] CCCTGGACAAGTTCCTGGCTTCTGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHATLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in compound heterozygosity with the CD 41/42 (-CTTT) [IthaID: 147] in a 36-year-old Chinese male presented with microcytosis.
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: | 34407 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
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
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
- Ju AP, Zheng LH, Fu XT, Liu SX, Li YQ, Hb Huadu [α124(H7)Ser→Thr (CC>CC), : c.373T>A]: A Novel Variant of the α-Globin Gene., Hemoglobin, 46(6), 335-337, 2022 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-02-24 | First report. |
Created on 2021-02-24 14:21:18,
Last reviewed on 2023-03-08 12:09:03 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-02-24 14:21:18 | The IthaGenes Curation Team | Created |
| 2 | 2021-02-24 14:23:08 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 3 | 2022-09-06 08:45:15 | The IthaGenes Curation Team | Reviewed. Hb name corrected. |
| 4 | 2022-09-15 12:38:36 | The IthaGenes Curation Team | Reviewed. Comment edit. |
| 5 | 2023-03-08 12:09:03 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07