IthaID: 2508
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 120 GCG>GAG [Ala>Glu] | HGVS Name: | HBA1:c.362C>A |
| Hb Name: | Hb J-Meerut | Protein Info: | α1 120(H3) Ala>Glu |
Context nucleotide sequence:
CACCTCCCCGCCGAGTTCACCCCTG [A/C] GGTGCACGCCTCCCTGGACAAGTTC (Strand: +)
Also known as: Hb J-Birmingham
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38207 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Indian, Japanese, Turkish |
| 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
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Publications / Origin
- Blackwell RQ, Wong HB, Wang CL, Weng MI, Liu CS, Hemoglobin J Meerut: alpha120 Ala leads to Glu., Biochim. Biophys. Acta , 351(1), 7-12, 1974 PubMed
- Harano T, Harano K, Imai K, Yunoki H, Yagi H, Nagashima K, Kuroume T, Hb J-Meerut [alpha 120(H3)Ala----Glu] found in a Japanese family., Hemoglobin , 13(2), 169-75, 1989 PubMed
- Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
- Yalçin A, Avcu F, Beyan C, Gürgey A, Ural AU, A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu]., Hemoglobin , 18(6), 433-5, 1994 PubMed
- Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 12:23:26,
Last reviewed on 2024-02-13 12:34:32 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-05 12:23:26 | The IthaGenes Curation Team | Created |
| 2 | 2024-02-13 12:34:32 | The IthaGenes Curation Team | Reviewed. ClinVar corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07