IthaID: 3794
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 3 (CTG>AAG) [Leu>Lys] | HGVS Name: | HBB:c.10_11delinsAA |
| Hb Name: | Hb Jiangnan | Protein Info: | N/A |
Context nucleotide sequence:
CAAACAGACACCATGGTGCAT [CT/AA] GACTCCTGAGGAGAAGTCTGCC (Strand: -)
Protein sequence:
MVHΚTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The Hb variant separated by HPLC but co-eluted with HbF by the CE (HbF+HbX 31.8%).
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70604 |
| Size: | 2 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liang L, Ning S, Lu X, Li Y, Tian M, Qin T, Li Y, A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, :c.10-_11delinsAA] causing elevated Hb A level., Hematology, 27(1), 772-777, 2022
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-06-03 | First report. |
Created on 2021-06-07 12:11:01,
Last reviewed on 2022-08-01 10:36:55 (Show full history)
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