IthaID: 757
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 133 AGC>AGA [Ser>Arg] | HGVS Name: | HBA2:c.402C>A |
| Hb Name: | Hb Val de Marne | Protein Info: | α2 133(H16) Ser>Arg |
Context nucleotide sequence:
TGGACAAGTTCCTGGCTTCTGTGAG [C/A] ACCGTGCTGACCTCCAAATACCGTT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVRTVLTSKYR
Also known as: Hb Footscray
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34436 |
| 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, French, Hungarian, Polish |
| 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
- Wajcman H, Kister J, M'Rad A, Marden MC, Riou J, Galacteros F, Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity., Hemoglobin , 17(5), 407-17, 1993 PubMed
- Owen MC, Hendy JG, Hb Footscray or alpha 133(H16) Ser-->Arg: a new hemoglobin variant., Hemoglobin , 18(1), 19-27, 1994 PubMed
- Ma ES, Chan AY, Lee AC, Molecular characterization of Hb Val de Marne [alpha133(H16)Ser-->Arg; AGC-->AGA; (alpha2)] in a Chinese family., Hemoglobin , 28(3), 213-6, 2004 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:45:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-15 11:46:47 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, references and ClinVar link. |
| 4 | 2014-04-15 11:55:31 | The IthaGenes Curation Team | Reviewed. Additional locations provided. |
| 5 | 2021-04-07 12:45:42 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07