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
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
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)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.