IthaID: 503
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 30 GAG>AAG [Glu>Lys] | HGVS Name: | HBA2:c.91G>A |
| Hb Name: | Hb O-Padova | Protein Info: | α2 30(B11) Glu>Lys |
Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G/A] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALKRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 33866 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian, Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 305 | Hb O-Padova | α2 | D-10 | Dual Kit Program | 14.2 | 4.42 | Heterozygote, clinically normal. | [PDF] | |
| 306 | Hb O-Padova | α2 | VARIANT | β-thal Short Program | 15.3 | 4.73 | Heterozygote. Clinically normal. | [PDF] | |
| 307 | Hb O-Padova | α2 | VARIANT II | β-thal Short Program | 16.7 | 4.79 | Heterozygote. Clinically normal. | [PDF] | |
| 308 | Hb O-Padova | α2 | VARIANT II | Dual Kit Program | 14.5 | 3.93 | Heterozygote. Clinically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Vettore L, De Sandre G, Di Iorio EE, Winterhalter KH, Lang A, Lehmann H, A new abnormal hemoglobin O Padova, alpha 30 (B11) Glu -- Lys, and a dyserythropoietic anemia with erythroblastic multinuclearity coexisting in the same patient., Blood , 44(6), 869-77, 1974
- Barbui T, Capaldi A, Trento M, Rabino-Massa E, Decrescenzo A, Modica A, Rege-Cambrin G, Ricco G, Association between Hb O Padova [alpha 30 (B 11) Glu leads to Lys] and Rendu-Osler disease., Panminerva Med , 25(1), 31-5, 1983
- Kilinç Y, Kumi M, Gurgey A, Altay C, Webber BB, Wilson JB, Kutlar A, Huisman TH, Hemoglobin O-Padova or alpha(2)30(B11)Glu----Lys beta 2 observed in members of a Turkish family., Hemoglobin , 9(6), 621-5, 1985
- Martín G, Villegas A, Calero F, del Palacio S, López JC, López M, Espinós D, Hb O Padova in a Spanish Family., Acta Haematol. , 84(1), 1-4, 1990
- Schnedl WJ, Reisinger EC, Katzensteiner S, Lipp RW, Schreiber F, Hopmeier P, Krejs GJ, Haemoglobin O Padova and falsely low haemoglobin A1c in a patient with type I diabetes., J. Clin. Pathol. , 50(5), 434-5, 1997
- Schnedl WJ, Krause R, Halwachs-Baumann G, Trinker M, Lipp RW, Krejs GJ, Evaluation of HbA1c determination methods in patients with hemoglobinopathies., Diabetes Care , 23(3), 339-44, 2000
- Lahousen T, Roller RE, Lipp RW, Schnedl WJ, Silent haemoglobin variants and determination of HbA(1c) with the HPLC Bio-Rad Variant II., J. Clin. Pathol. , 55(9), 699-703, 2002
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-02 11:32:15 (Show full history)
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