IthaID: 3973
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 68 AAC>AAR | HGVS Name: | NG_000006.1:g.[34099C>R;34247_38050del] |
| Hb Name: | Hb G-Philadelphia | Protein Info: | N/A |
Also known as: -α3.7-Hb G-Philadelphia
Comments: The missense mutation Hb G-Philadelphia [IthaID: 596] was found on a chromosome that carries -α3.7 (type I) [IthaID: 300], in a homozygous case for the -α3.7 deletion. Reported as both an AAC>AAA or AAG change [Asn>Lys].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34099 or 34247 |
| Size: | 1 bp or 3.804 kb |
| Located at: | α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Molchanova TP, Pobedimskaya DD, Ye Z, Huisman TH, Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes., Am. J. Hematol. , 45(4), 345-6, 1994 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Papasavva, Thessalia | 2022-09-23 | First report. AAC>AAA change |
Created on 2022-09-23 12:01:53,
Last reviewed on 2024-03-08 10:59:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-09-23 12:01:53 | The IthaGenes Curation Team | Created |
| 2 | 2022-09-26 15:03:22 | The IthaGenes Curation Team | Reviewed. Synonym added. |
| 3 | 2022-09-28 11:40:18 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 4 | 2024-03-06 09:33:54 | The IthaGenes Curation Team | Reviewed. HGVS name corrected |
| 5 | 2024-03-06 10:33:17 | The IthaGenes Curation Team | Reviewed. Reference added |
| 6 | 2024-03-06 10:58:28 | The IthaGenes Curation Team | Reviewed. |
| 7 | 2024-03-06 14:19:21 | The IthaGenes Curation Team | Reviewed. |
| 8 | 2024-03-06 14:20:50 | The IthaGenes Curation Team | Reviewed. Location |
| 9 | 2024-03-06 14:21:26 | The IthaGenes Curation Team | Reviewed. |
| 10 | 2024-03-06 15:01:40 | The IthaGenes Curation Team | Reviewed. |
| 11 | 2024-03-06 15:02:57 | The IthaGenes Curation Team | Reviewed. |
| 12 | 2024-03-08 10:59:25 | The IthaGenes Curation Team | Reviewed. Comment added |
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.
IthaGenes was last updated on 2024-11-20 13:24:07