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
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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-01-29 16:05:44 (Show full history)
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