IthaID: 497



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GAG>GTG [Glu>Val] HGVS Name: HBA1:c.83A>T | HBA2:c.83A>T
Hb Name: Hb Spanish Town Protein Info: α2 or α1 27(B8) Glu>Val

Context nucleotide sequence:
GCGCACGCTGGCGAGTATGGTGCGG [A/C/G/T] GGCCCTGGAGAGGTGAGGCTCCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAVALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33858 or 37662
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Jamaican
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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
  3. Ruiz-Reyes G, [Abnormal hemoglobins and thalassemias in Mexico]., Rev. Invest. Clin. , 50(2), 163-70, 1998 PubMed
  4. 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 2014-03-13 12:43:34 (Show full history)

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