IthaID: 1320

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 147 (+TA) HGVS Name: HBB:c.442_443dupTA
Hb Name: Hb Monplaisir Protein Info: β 147(+TA); modified C-terminal sequence: (147)Tyr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe- | Tyr-(158)COOH

Context nucleotide sequence:

Also known as:

Comments: Found in a heterozygous state in a male subject of Spanish origin with normal haematological parameters. Abnormal haemoglobin (Hb) identified on IEF and CE-HPLC. Normal oxygen affinity and isopropanol stability tests. No Heinz bodies detected on a brilliant cresyl blue preparation. Liquid chromatography MS/MS identified the peptide: the insertion (TA) at the normal stop codon (TAA) leads to a modified C-terminal sequence (147)YKLAFLLSNFY(158)COOH.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 72016
Size: 2 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Spanish
Molecular mechanism: Elongated globin
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A, Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met]., Hemoglobin, 33(3), 196-205, 2009 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-11-12 12:13:09 (Show full history)

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