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 |
Context nucleotide sequence:
GCGCACGCTGGCGAGTATGGTGCGG [A/T] GGCCCTGGAGAGGTGAGGCTCCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAVALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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) |
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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
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
- 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 PubMed
- 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 PubMed
- Ruiz-Reyes G, [Abnormal hemoglobins and thalassemias in Mexico]., Rev. Invest. Clin. , 50(2), 163-70, 1998 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-04 12:34:03 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2014-03-13 12:43:34 | The IthaGenes Curation Team | Reviewed. |
3 | 2021-03-04 12:31:54 | The IthaGenes Curation Team | Reviewed. HGVS and protein name corrected. Comment added. |
4 | 2021-03-04 12:33:21 | The IthaGenes Curation Team | Reviewed. Selected gene corrected. |
5 | 2021-03-04 12:34:03 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2023-03-22 16:46:31