IthaID: 1043

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln) HGVS Name: HBB:p.73_75delinsAlaArgCysGln
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

External Links


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


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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Canadian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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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 2018-04-17 09:31:23 (Show full history)

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