IthaID: 1043

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln) HGVS Name: HBB:c.220_228delinsGCTCGGTGCCAG
Hb Name: Hb Montreal Protein Info: β 73(E17) - 75(E19) Asp-Gly-Leu->0 AND Ala-Arg-Cys-Gln- inserted between codons 72(E16) and 76(E20) of β

Also known as:

Comments: Found in a 7-year-old Canadian boy suffering from a moderate hemolytic anemia. The unstable hemoglobin caused by a deletion of three amino acid residues and an insertion of four residues.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70944
Size: 9 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Plaseska D, Dimovski AJ, Wilson JB, Webber BB, Hume HA, Huisman TH, Hemoglobin Montreal: a new variant with an extended beta chain due to a deletion of Asp, Gly, Leu at positions 73, 74, and 75, and an insertion of Ala, Arg, Cys, Gln at the same location., Blood, 77(1), 178-81, 1991 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-05-04 13:13:07 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.