IthaID: 3757
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 23 GAG>CAG [Glu>Gln] | HGVS Name: | HBA1:c.70G>C |
| Hb Name: | Hb Memphis | Protein Info: | α1 23(B4) Glu>Gln |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGGTAAGGTCGGCGCGCACGCTGGC [G/C] AGTATGGTGCGGAGGCCCTGGAGAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGQYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 37649 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African, British |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Cooper MR, Kraus AP, Felts JH, Ramseur WL, Myers R, Kraus LM, A third case of hemoglobin Memphis-sickle cell disease. Whole blood viscosity used as a screening test., Am. J. Med. , 55(3), 535-41, 1973
- Lubrano L, Donnelly MJ, Sandler G, Hoyer JD, Swanson KC, Dawson DB, Oliveira JL, Hb Memphis [HBA2: c.70G>C (or HBA1)] in a Turkish child: a case report and comparison to Hb Q-Thailand (HBA1: c.223G>C)., Hemoglobin, 38(2), 137-41, 2014
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2021-03-31 20:46:17,
Last reviewed on (Show full history)
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