IthaID: 516

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 37 +GAA [+Glu] HGVS Name: HBA1:c.114_115insGAA | HBA2:c.114_115insGAA
Hb Name: Hb Catonsville Protein Info: Glu- inserted between codons 37(C2) and 38(C3) of α1 or α2

Context nucleotide sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34006 or 37810
Size: 3 bp or 3 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Swan DC, Hine TK, Baine RM, Jue DL, Benson JM, Johnson MH, Virshup DM, Zinkham WH, Hb Catonsville (glutamic acid inserted between Pro-37(C2)alpha and Thr-38(C3)alpha). Nonallelic gene conversion in the globin system?, J. Biol. Chem. , 264(36), 21454-7, 1989 PubMed
  2. Dash S, Das R, Late emergence of polycythemia in a case of Hb Chandigarh [beta94(FG1)Asp-->Gly]., Hemoglobin , 28(3), 273-4, 2004 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2017-06-14 12:38:39 (Show full history)

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