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IthaID: 4098
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | CD 86 CTG>CCG [Leu>Pro] | HGVS Name: | HBA1:c.260T>C |
Hb Name: | Hb Thessaloniki | Protein Info: | N/A |
Context nucleotide sequence:
AACGCGCTGTCCGCCCTGAGCGACC [T>C] GCACGCGCACAAGCTTCGGGTGGAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDPHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Heterozygote with 14g/dL Hb, 42.9% HCT, 5.77x10^6/uL RBC, 24.2pg MCH, 74.2fL MCV, 14.3% RDW, 1.8% HbA2, 154ng/mL serum ferritin, and inclusion bodies (+). Mild microcytic and hypochromic erythrocyte indices. No abnormal Hb variant detected in HPLC analysis. Positive isopropanol precipitation test. The Leu>Pro replacement occurs next to the heme binding proximal histidine, probably affecting the stability of the protein.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | α⁺ |
Stability: | Unstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | 37956 |
Size: | 1 bp |
Located at: | α1 |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Northern Greece (Macedonia), |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
A/A | Contributor(s) | Date | Comments |
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1 | Boutou, Effrossyni | 2024-05-01 | First report. |
A/A | Date | Curator(s) | Comments |
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1 | 2024-05-08 17:05:09 | The IthaGenes Curation Team | Created |
2 | 2024-05-09 11:58:23 | The IthaGenes Curation Team | Reviewed. Comment added. |