IthaID: 233
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 109 (-G) >156aa | HGVS Name: | HBB:c.328delG |
| Hb Name: | Hb Manhattan | Protein Info: | β 109 (-G); modified C-terminal sequence: (109)Cys-Trp-Ser-Val-Cys-Trp-Pro-Ile-Thr-Leu- Ala-Lys-Asn-Ser-Pro-His-Gln-Cys-Arg-Leu- Pro-Ile-Arg-Lys-Trp-Trp-Leu-Val-Trp-Leu- Met-Pro-Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu- Ala-Phe-Leu-Leu-Ser-Asn-Phe-(156)Tyr-COOH |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTTCCTCCCACAGCTCCTGGGCAAC [-/G] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71902 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Lithuanian, British, Ashkenazi |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Kazazian HH, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG, Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene., Blood, 79(11), 3014-8, 1992
- Knott M, Ramadan KM, Savage G, Jones FG, El-Agnaf M, McMullin MF, Percy MJ, Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population., Blood cells, molecules & diseases, 36(2), 265-8, 2006
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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