IthaID: 690

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 99 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.298A>G | HBA2:c.298A>G
Hb Name: Hb Turriff Protein Info: α2 or α1 99(G6) Lys>Glu

Context nucleotide sequence:

Protein sequence:

Comments: Disrupted AHSP binding. Not associated with any hematological disturbance.


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34190 or 37994
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


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: Scottish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Langdown JV, Davidson RJ, Williamson D, A new alpha chain variant, Hb Turriff [alpha 99(G6)Lys----Glu]: the interference of abnormal hemoglobins in Hb A1c determination., Hemoglobin , 16(1), 11-7, 1992 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2015-12-03 16:57:20 (Show full history)

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