IthaID: 3915
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 23 GAG>AAG | HGVS Name: | NG_000006.1:g.34247_38050del;33845G>A |
| Hb Name: | Hb Chad | Protein Info: | N/A |
Also known as:
Comments: : The missense mutation GAG>AAG [Glu>Lys] at codon 23, found in the context of a −α3.7 thalassaemia chromosome.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33845 |
| Size: | 1 bp |
| Located at: | α3.7 hybrid |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Suriname |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Codrington JF, Codrington FA, Wisse JH, Wilson JB, Webber BB, Wong SC, Huisman TH, Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S., Hemoglobin , 13(6), 543-56, 1989
Created on 2022-04-07 13:30:31,
Last reviewed on 2022-04-07 13:32:33 (Show full history)
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