IthaID: 412
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 129 CTG>CCG [Leu>Pro] | HGVS Name: | HBA2:c.389T>C |
| Hb Name: | Hb Utrecht | Protein Info: | α2 129(H12) Leu>Pro |
Context nucleotide sequence:
GTGCACGCCTCCCTGGACAAGTTCC [C/T] GGCTTCTGTGAGCACCGTGCTGACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFPASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34423 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Dutch, Indonesian |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Giordano PC, Losekoot M, Heister JG, Batelaan D, van Delft P, Bruin MC, Bernini LF, Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype., British journal of haematology, 94(3), 483-5, 1996
- Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996
Created on 2010-06-16 16:13:15,
Last reviewed on 2018-05-16 18:38:22 (Show full history)
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