IthaID: 796

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 2 CAT>CCT [His>Pro] HGVS Name: HBB:c.8A>C
Hb Name: Hb Marseille Protein Info: β 2(NA2) His>Pro

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Long Island-Marseille, Hb Agrigente

Comments: Found in a 32-year old female in cis with the synonymous HBB:c.9T>C (CAT>CAC, [His>Pro]), which resulted in 1 amino-acid change from His to Pro.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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: 70602
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: American, Australian, French, Maltese, Sicilian, Chinese
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Blouquit Y, Arous N, Lena D, Delanoe-Garin J, Lacombe C, Bardakdjian J, Vovan L, Orsini A, Rosa J, Galacteros F, Hb Marseille [alpha 2 beta 2 N methionyl-2 (NA2) His----Pro]: a new beta chain variant having an extended N-terminus., FEBS letters, 178(2), 315-8, 1984 PubMed
  2. Boi S, Hendy J, Goodall I, Gilbert A, Fleming P, Hughes WG, First report of HB Long Island-Marseille in Australia--a chance discovery., Hemoglobin, 13(5), 515-20, 1989 PubMed
  3. Wei L, Nan Y, Ying B, Zuoliang D, A Pitfall in HbA1c Testing Caused by Hb Long Island Hemoglobin Variant., Lab Med, 51(1), e1-e5, 2020 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-10-25 13:45:52 (Show full history)

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