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
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
Created on 2023-06-01 16:09:05,
Last reviewed on 2023-06-29 10:57:44 (Show full history)
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