IthaID: 497
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 27 GAG>GTG [Glu>Val] | HGVS Name: | HBA2:c.83A>T |
| Hb Name: | Hb Spanish Town | Protein Info: | α2 27(B8) Glu>Val |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCGCACGCTGGCGAGTATGGTGCGG [A/T] GGCCCTGGAGAGGTGAGGCTCCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAVALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Found in a Black Jamaican family presented as clinically asymptomatic in a heterozygote state. The Hb Spanish Town also reported in compound heterozygosity with the Hb S [IthaID:824] and in association with the -α3.7 deletion [IthaID: 300] in an 18-month old girl presented with hypochromia and microcytosis. Isoelectrofocusing analysis shown the two unstable Hbs (Hb Spanish Town and Hb S).
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33858 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Jamaican, Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ahern E, Ahern V, Holder W, Palomino E, Serjeant GR, Serjeant BE, Forbes M, Brimhall B, Jones RT, Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8)., Biochim. Biophys. Acta , 427(2), 530-5, 1976
- Cash FE, Monplaisir N, Goossens M, Liebhaber SA, Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)., Blood , 74(2), 833-5, 1989
- Ruiz-Reyes G, [Abnormal hemoglobins and thalassemias in Mexico]., Rev. Invest. Clin. , 50(2), 163-70, 1998
- Faustino P, Picanço I, Miranda A, Seixas T, Ferrão A, Morais A, Lavinha J, Romão L, Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion., Hemoglobin , 26(2), 185-9, 2002