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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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
- 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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-10-21 12:01:01 | The IthaGenes Curation Team | Reviewed. Synonyms, links and reference added. |
| 4 | 2021-10-25 13:45:52 | The IthaGenes Curation Team | Reviewed. Reference and origin added. |
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IthaGenes was last updated on 2024-11-20 13:24:07