IthaID: 2376

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 46 TTC>TCC [Phe>Ser] HGVS Name: HBA2:c.140T>C
Hb Name: Hb Lake Tapawingo Protein Info: α2 46(CE4) Phe>Ser

Context nucleotide sequence:

Also known as:

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34032
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: Caucasian
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Guest EM, Neville KA, Hoyer JD, Safo MK, Garg U, Saunders CJ, Abdulmalik O, Zwick DL, Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation., Hemoglobin , 35(4), 411-6, 2011 PubMed
Created on 2014-05-26 10:02:23, Last reviewed on (Show full history)

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