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 |
Context nucleotide sequence:
CTTCCTCCCACAGCTCCTGGGCAAC [-/G] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.