IthaID: 4027
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 133 AGC>CGC [Ser>Arg] | HGVS Name: | HBA2:c.400A>C |
| Hb Name: | Hb Val de Marne | Protein Info: | α133(H16) Ser>Arg |
Context nucleotide sequence:
CTGGACAAGTTCCTGGCTTCTGTG [A>C] GCACCGTGCTGACCTCCAAATACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVRTVLTSKYR
Also known as:
Comments: Reported in a heterozygous state in persons of Chinese origin with normal haematological indices. The variant Hb is detactable by CE (12-16%).
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: | 38245 |
| 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
- Yao C, Qin D, Wang J, Bao X, Liang J, Du L, First study to describe a novel : c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families., Hematology, 27(1), 867-873, 2022 PubMed
Created on 2023-06-01 16:09:05,
Last reviewed on 2023-06-29 10:57:44 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-06-01 16:09:05 | The IthaGenes Curation Team | Created |
| 2 | 2023-06-29 10:57:44 | The IthaGenes Curation Team | Reviewed. Hemoglobinopathy type corrected |
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IthaGenes was last updated on 2024-04-18 10:10:45