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:
ACCTCAAACAGACACCATGGTGC [A/C] TCTGACTCCTGAGGAGAAGTCTG (Strand: -)
Protein sequence:
MVPLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- 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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-10-25 13:45:52 (Show full history)
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