IthaID: 2528
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 64 GAC>AAC [Asp>Asn] | HGVS Name: | HBA1:c.193G>A |
| Hb Name: | Hb G-Waimanalo | Protein Info: | α1 64(E13) Asp>Asn |
Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [G/A] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVANALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Wädenswil, Hb Burgos
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37889 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Egyptian, Spanish |
| 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
- de la Fuente-Gonzalo F, Martínez Nieto J, Torrejón MJ, Mayor LA, Velasco D, González Fernández FA, Ropero Gradilla P, [Hb Burgos (α1 CD64(E13)(Asp→Asn)): A new hemoglobin variant detected during follow-up of diabetic patients]., Med Clin (Barc) , 144(1), 26-9, 2015 PubMed
- Karow A, Eekels JJ, Zurbriggen K, Schmid M, Schmugge M, Speer O, Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity., Hemoglobin, 39(6), 432-4, 2015 PubMed
- Kumar R, Mishra S, Uikey RS, Gwal A, Mun A, Bharti PK, Shanmugam R, De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG; HBA1:c.193G>A) variant in a sickle cell disease patient of an Indian tribe., J Clin Pathol, 2020 PubMed
Created on 2014-10-09 11:55:54,
Last reviewed on 2022-07-08 13:40:48 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-10-09 11:55:54 | The IthaGenes Curation Team | Created |
| 2 | 2020-10-27 13:09:42 | The IthaGenes Curation Team | Reviewed. Merged with IthaID 2547. |
| 3 | 2020-10-27 13:10:55 | The IthaGenes Curation Team | Reviewed. Synonym added. |
| 4 | 2022-07-08 13:40:48 | The IthaGenes Curation Team | Reviewed. Hb name corrected. References added. |
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IthaGenes was last updated on 2024-11-20 13:24:07