IthaID: 237
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 114 CTG>CCG [Leu>Pro] | HGVS Name: | HBB:c.344T>C |
| Hb Name: | Hb Durham-N.C. | Protein Info: | β 114(G16) Leu>Pro |
Context nucleotide sequence:
CTGGGCAACGTGCTGGTCTGTGTGC [C/T] GGCCCATCACTTTGGCAAAGAATTC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVPAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Brescia
Comments: The rare Hb Durham-N.C. variant was presented in compound heterozygosity with the common IVS-I-110 (HBB: c.93-21G>A) variant, causing an early-onset severe β-Thalassaemia phenotype [PMID: 31456457]. Found in a heterozygous state in a Kurdish/Jew patient presenting with thalassaemia intermedia [PMID: 8980256]. Also reported in an Italian patient as a de novo mutation [PMID: 1301199].
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant Dominant |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71918 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | US Irish, Italian, Irish, Russian, Sicilian, Kurdish Jew |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
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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Frequencies
Publications / Origin
- Murru S, Poddie D, Sciarratta GV, Agosti S, Baffico M, Melevendi C, Pirastu M, Cao A, A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype., Hum. Mutat., 1(2), 124-8, 1992 PubMed
- Cürük MA, Molchanova TP, Postnikov YuV , Pobedimskaya DD, Liang R, Baysal E, Kolodey S, Smetanina NS, Tokarev YuN , Rumyantsev AG, Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients., American journal of hematology, 46(4), 329-32, 1994 PubMed
- de Castro CM, Devlin B, Fleenor DE, Lee ME, Kaufman RE, A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype., Blood, 83(4), 1109-16, 1994 PubMed
- Rund D, Oron-Karni V, Filon D, Goldfarb A, Rachmilewitz E, Oppenheim A, Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype., Am. J. Hematol., 54(1), 16-22, 1997 PubMed
- Cannata M, Cassarà F, Vinciguerra M, Licari P, Passarello C, Leto F, Lo Pinto C, Pitrolo L, Ganci R, Maggio A, Giambona A, Double Heterozygosity for Hb Durham-N.C. (: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype., Hemoglobin, 43(3), 210-213, 2019 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-06-26 15:08:09 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-02-27 16:01:20 | The IthaGenes Curation Team | Reviewed. Comment, Origin and Reference added |
| 4 | 2020-06-26 15:08:09 | The IthaGenes Curation Team | Reviewed. References added, Comment and Ethnicity updated. |
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