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 Wädenswil | Protein Info: | α1 64(E13) Asp>Asn |
Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [A/C/G/T] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)
Also known as: Hb Burgos
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: | No |
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
Created on 2014-10-09 11:55:54,
Last reviewed on 2020-10-27 13:10:55 (Show full history)
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