IthaID: 2549

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 87 CAC>CAA [His>Glu] HGVS Name: HBA2:c.264C>A
Hb Name: Hb Lansing (A) Protein Info: α2 87(F8) His>Glu

Context nucleotide sequence:

Also known as:

Comments: This variant has identical protein structure to Hb Lansing (ithaID: 2308)

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34156
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Turkish
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Akar N, Torun D, Oztürk A, Hemoglobin Lansing (Alpha) [HBA2 CD87 (HIS>GLU) (C>A)] in a Turkish Individual Resulting from Another Nucleotide Substitution., Turk J Haematol , 31(3), 317-318, 2014
Created on 2015-01-12 12:30:03, Last reviewed on 2015-01-12 12:32:45 (Show full history)

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