IthaID: 421
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 142 (TAA>GAA) >172aa | HGVS Name: | HBA2:c.427T>G |
| Hb Name: | Hb Seal Rock | Protein Info: | α2 142, Stop>Glu; modified C-terminal sequence: (142)Glu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CACCGTGCTGACCTCCAAATACCGT [A/C/G/T] AAGCTGGAGCCTCGGTAGCCGTTCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRE
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34461 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African |
| Molecular mechanism: | Elongated globin |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 376 | Hb Seal Rock | α2 | D-10 | Dual Kit Program | 1.5 | 4.59 | Heterozygous. Modified C-terminal sequence. | [PDF] | |
| 377 | Hb Seal Rock | α2 | VARIANT | β-thal Short Program | 1.9 | 4.7 | Heterozygous. Modified C-terminal sequence. | [PDF] | |
| 378 | Hb Seal Rock | α2 | VARIANT II | β-thal Short Program | 0.9 | 4.77 | Heterozygous. Modified C-terminal sequence. | [PDF] | |
| 379 | Hb Seal Rock | α2 | VARIANT II | Dual Kit Program | 0.7 | 4.104 | Heterozygous. Modified C-terminal sequence. | [PDF] |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Merritt D, Jones RT, Head C, Thibodeau SN, Fairbanks VF, Steinberg MH, Coleman MB, Rodgers GP, Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb)., Hemoglobin , 21(4), 331-44, 1997
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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