IthaID: 2502
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 51 GGC>CGC [Gly>Arg] | HGVS Name: | HBA1:c.154G>C |
| Hb Name: | Hb Russ | Protein Info: | α1 51(CE9) Gly>Arg |
Context nucleotide sequence:
CTTCCCGCACTTCGACCTGAGCCAC [C/G] GCTCTGCCCAGGTTAAGGGCCACGG (Strand: +)
Also known as:
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: | 37850 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | American, Caucasian, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 137 | Hb Russ | α1 | D-10 | Dual Kit Program | 15.3 | 4.09 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | |
| 138 | Hb Russ | α1 | VARIANT | β-thal Short Program | 15.7 | 4.18 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | |
| 139 | Hb Russ | α1 | VARIANT II | β-thal Short Program | 15.1 | 4.32 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] | |
| 140 | Hb Russ | α1 | VARIANT II | Dual Kit Program | 16 | 3.483 | Heterozygous. Elutes in HbS window. Clinically normal. | [PDF] |
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
- 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
Created on 2014-06-05 11:04:14,
Last reviewed on (Show full history)
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