IthaID: 496



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 27 GAG>GGG [Glu>Gly] HGVS Name: HBA1:c.83A>G | HBA2:c.83A>G
Hb Name: Hb Fort Worth Protein Info: α2 or α1 27(B8) Glu>Gly

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAGALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: N/A
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: African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Schneider RG, Brimhall B, Jones RT, Bryant R, Mitchell CB, Goldberg AI, Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration., Biochim. Biophys. Acta , 243(2), 164-9, 1971 PubMed
  2. Carstairs KC, Raulfs A, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH, Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada., Hemoglobin , 9(2), 201-5, 1985 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-05-17 16:03:47 (Show full history)

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