IthaID: 720
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 116 GAG>AAG [Glu>Lys] | HGVS Name: | HBA1:c.349G>A |
| Hb Name: | Hb O-Indonesia | Protein Info: | α1 116(GH4) Glu>Lys |
Context nucleotide sequence:
GACCCTGGCCGCCCACCTCCCCGCC [A/C/G] AGTTCACCCCTGCGGTGCACGCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAKFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Buginese-X, Hb Oliviere
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38194 |
| 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: | Buginese, Chinese, Iranian, Italian, Makassars, South African, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- 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
- Daud D, Harahap A, Setianingsih I, Nainggolan I, Tranggana S, Pakasi R, Marzuki S, The hemoglobin O mutation in Indonesia: distribution and phenotypic expression., J. Hum. Genet. , 46(9), 499-505, 2001 PubMed
- Kumar R, Patel P, Gwal A, Bharti PK, Colah R, Rajasubramaniam S, Clinico-Hematological Presentation of Rare Hemoglobin Variant (HB-O Indonesia) in 3 Families., Indian J Hematol Blood Transfus, 35(3), 596-598, 2019 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-01-29 16:05:44 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 17:39:03 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype and references. |
| 4 | 2020-01-29 16:05:44 | The IthaGenes Curation Team | Reviewed. Reference added |
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IthaGenes was last updated on 2024-11-20 13:24:07