IthaID: 3586
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 85 TTT>TTG [Phe>Leu] | HGVS Name: | HBB:c.258T>G |
| Hb Name: | Hb Kennisis | Protein Info: | β 85(F1)Phe>Leu |
Context nucleotide sequence:
CACCTGGACAACCTCAAGGGCACCTT [T>G] GCCACACTGAGTGAGCTGCACTGT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTLATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found in a heterozygous state in a 61-year-old Canadian male of Maltese descent presenting with high Hb concentration on routine blood work. Low p50 level suggestive of a high oxygen affinity Hb variant. Normal isopropanol and heat stability tests.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70982 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Maltese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Nabhani IA, Aneke JC, Verhovsek M, Eng B, Kuo KHM, Rudinskas LC, Waye JS, Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TT>TT); : c.258T>G]., Hemoglobin, 2020
Created on 2020-04-30 20:23:02,
Last reviewed on 2020-04-30 20:23:45 (Show full history)
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