IthaID: 824
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 6 GAG>GTG [Glu>Val] | HGVS Name: | HBB:c.20A>T |
| Hb Name: | HbS | Protein Info: | β 6(A3) Glu>Val |
| Also known as: | Sickle-cell |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)
Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Sickling |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70614 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African, Indian, and many other |
| Molecular mechanism: | Altered secondary structure |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 6 | HbS | β | D-10 | Dual Kit Program | 34.2 | 4.06 | Heterozygous / Sickle Cell Trait | [PDF] | |
| 10 | HbS | β | D-10 | HbA1c Program | 40 | 1.65 | Heterozygous / Sickle Cell Trait | [PDF] | |
| 12 | HbS | β | D-10 | HbA1c Program | 81.2 | 1.65 | Homozygous | [PDF] | |
| 27 | HbS | β | D-10 | Dual Kit Program | 52.7 | 4.04 | Compound heterozygote between HbS and HPFH | [PDF] | |
| 36 | HbS | β | D-10 | HbA1c Program | 38.2 | 1.77 | Compound heterozygote between HbS and HbC | [PDF] | |
| 45 | HbS | β | D-10 | Dual Kit Program | 21.3 | 4.11 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | |
| 230 | HbS | β | D-10 | Dual Kit Program | 83.3 | 4.02 | Homozygote. Classical chromatogram of an SS patient. | [PDF] | |
| 236 | HbS | β | D-10 | Dual Kit Program | 88.5 | 4.04 | Homozygous Hb S. The trace amount of HbA remains from a blood transfusion. | [PDF] | |
| 241 | HbS | β | D-10 | Dual Kit Program | 70.3 | 4.04 | Homozygous HbS recently transfused. | [PDF] | |
| 247 | HbS | β | D-10 | Dual Kit Program | 23.3 | 4.1 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | |
| 251 | HbS | β | D-10 | Dual Kit Program | 74.1 | 4.07 | [PDF] | ||
| 262 | HbS | β | D-10 | Dual Kit Program | 74.8 | 4.04 | Classical chromatogram of a SS patient, the high HbF level suggests that the patient may be heterozygote (or perhaps homozygote) for one of the haplotype stimulating HbF synthesis. | [PDF] | |
| 313 | HbS | β | D-10 | Dual Kit Program | 32.4 | 4.08 | Homozygous HbS recently transfused (Exchange transfused) | [PDF] | |
| 396 | HbS | β | D-10 | Dual Kit Program | 26.4 | 4.09 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | |
| 400 | HbS | β | D-10 | Dual Kit Program | 30 | 4.09 | HbS carrier + alpha-thal 2 (-3.7 del.). | [PDF] | |
| 467 | HbS | β | D-10 | Dual Kit Program | 67.9 | 4.03 | Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)) | [PDF] | |
| 490 | HbS | β | D-10 | Dual Kit Program | 31.4 | 4.07 | Compound heterozygote for HbC and HbS | [PDF] | |
| 496 | HbS | β | D-10 | Dual Kit Program | 39.5 | 4.22 | Hb S/beta thal (probably a delta-beta thalassemia). | [PDF] | |
| 499 | HbS | β | D-10 | Dual Kit Program | 8 | 4.12 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | |
| 503 | HbS | β | D-10 | Dual Kit Program | 54.4 | 4.07 | HbS homozygous with HPFH. | [PDF] | |
| 508 | HbS | β | D-10 | Dual Kit Program | 46 | 4.08 | Compound heterozygote for HbS and HbC, together with alpha-thal 2. | [PDF] | |
| 514 | HbS | β | D-10 | Dual Kit Program | 69.2 | 4.05 | Compound heterozygote for HbS and Beta (+) thal | [PDF] | |
| 517 | HbS | β | D-10 | Dual Kit Program | 46.1 | 4.06 | Compound heterozygote for HbS and HbC | [PDF] | |
| 523 | HbS | β | D-10 | Dual Kit Program | 58.9 | 4.06 | Compound heterozygote for HbS and B (+) thalassaemia. | [PDF] | |
| 527 | HbS | β | D-10 | Dual Kit Program | 44.4 | 4.07 | Compound heterozygote for HbS and HbC | [PDF] | |
| 559 | HbS | β | D-10 | Dual Kit Program | 30.7 | 4.08 | HbS carrier with alpha-thalassaemia (α3.7/αα). | [PDF] | |
| 7 | HbS | β | VARIANT | β-thal Short Program | 34.5 | 4.26 | Heterozygous / Sickle Cell Trait | [PDF] | |
| 43 | HbS | β | VARIANT | β-thal Short Program | 77.2 | 4.3 | Compoud heterozygote between HbS and beta (0) thal. | [PDF] | |
| 46 | HbS | β | VARIANT | β-thal Short Program | 22.9 | 4.35 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | |
| 231 | HbS | β | VARIANT | β-thal Short Program | 38.4 | 4.24 | Homozygote. Classical chromatogram of an SS patient. | [PDF] | |
| 238 | HbS | β | VARIANT | β-thal Short Program | 90.4 | 4.26 | Sickle cell disease. The trace amount of HbA remains from a blood transfusion. | [PDF] | |
| 242 | HbS | β | VARIANT | β-thal Short Program | 74.5 | 4.26 | Homozygous HbS recently transfused. | [PDF] | |
| 248 | HbS | β | VARIANT | β-thal Short Program | 22.4 | 4.25 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | |
| 263 | HbS | β | VARIANT | β-thal Short Program | 80.8 | 4.38 | Classical chromatogram of a SS patient, the high HbF level suggests that the patient may be heterozygote (or perhaps homozygote) for one of the haplotype stimulating HbF synthesis. | [PDF] | |
| 314 | HbS | β | VARIANT | β-thal Short Program | 36.4 | 4.31 | HbS homozygote, transfused. | [PDF] | |
| 397 | HbS | β | VARIANT | β-thal Short Program | 28.2 | 4.3 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | |
| 401 | HbS | β | VARIANT | β-thal Short Program | 32 | 4.33 | HbS carrier + alpha-thal 2 (-3.7 del.). | [PDF] | |
| 491 | HbS | β | VARIANT | β-thal Short Program | 31.4 | 4.37 | compound heterozygote for HbC and HbS | [PDF] | |
| 500 | HbS | β | VARIANT | β-thal Short Program | 12 | 4.22 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | |
| 504 | HbS | β | VARIANT | β-thal Short Program | 62.8 | 4.26 | HbS homozygous with HPFH. | [PDF] | |
| 507 | HbS | β | VARIANT | β-thal Short Program | 79.7 | 4.37 | Homozygous HbS. HbA remains from a blood transfusion. | [PDF] | |
| 510 | HbS | β | VARIANT | β-thal Short Program | 45.1 | 4.35 | Compound heterozygote for HbS and HbC | [PDF] | |
| 515 | HbS | β | VARIANT | β-thal Short Program | 74.6 | 4.38 | Compound heterozygote for HbS and Beta (+) thal | [PDF] | |
| 519 | HbS | β | VARIANT | β-thal Short Program | 45.8 | 4.37 | Compound heterozygote for HbS and HbC | [PDF] | |
| 524 | HbS | β | VARIANT | β-thal Short Program | 64.2 | 4.32 | Compound heterozygote for HbS and B (+) thalassemia | [PDF] | |
| 529 | HbS | β | VARIANT | β-thal Short Program | 44.7 | 4.36 | Compound heterozygote for HbS and HbC | [PDF] | |
| 537 | HbS | β | VARIANT | β-thal Short Program | 40.2 | 4.3 | Compound heterozygote for HbS and Hb D-Punjab | [PDF] | |
| 560 | HbS | β | VARIANT | β-thal Short Program | 31.6 | 4.35 | HbS carrier + alpha-thal 2 (-3.7 deletion). | [PDF] | |
| 8 | HbS | β | VARIANT II | β-thal Short Program | 34.6 | 4.4 | Heterozygous / Sickle Cell Trait | [PDF] | |
| 9 | HbS | β | VARIANT II | Dual Kit Program | 33.7 | 3.47 | Heterozygous / Sickle Cell Trait | [PDF] | |
| 11 | HbS | β | VARIANT II | HbA1c Program | 39.2 | 1.94 | Sickle Cell Trait | [PDF] | |
| 13 | HbS | β | VARIANT II | HbA1c Program | 84.4 | 1.93 | Homozygous | [PDF] | |
| 28 | HbS | β | VARIANT II | β-thal Short Program | 69.4 | 4.41 | Compound heterozygote for HbS and HPFH | [PDF] | |
| 29 | HbS | β | VARIANT II | HbA1c Program | 39.2 | 1.94 | Heterozygote / Sickle Cell Trait | [PDF] | |
| 42 | HbS | β | VARIANT II | Dual Kit Program - HbA1c | 44.7 | 1.88 | Heterozygous / Sickle Cell Trait | [PDF] | |
| 47 | HbS | β | VARIANT II | Dual Kit Program | 23.8 | 4.46 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | |
| 48 | HbS | β | VARIANT II | Dual Kit Program | 21.3 | 3.49 | HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). | [PDF] | |
| 239 | HbS | β | VARIANT II | β-thal Short Program | 91.1 | 4.45 | Sickle cell disease. The trace amount of HbA remains from a blood transfusion. | [PDF] | |
| 240 | HbS | β | VARIANT II | Dual Kit Program | 86.6 | 3.44 | Sickle cell disease. The trace amount of HbA remains from a blood transfusion. | [PDF] | |
| 243 | HbS | β | VARIANT II | β-thal Short Program | 75.3 | 4.43 | Homozygous HbS recently transfused. | [PDF] | |
| 244 | HbS | β | VARIANT II | Dual Kit Program | 68.9 | 3 | [PDF] | ||
| 245 | HbS | β | VARIANT II | Dual Kit Program | 68.9 | 3 | [PDF] | ||
| 246 | HbS | β | VARIANT II | Dual Kit Program | 68.9 | 3.45 | [PDF] | ||
| 249 | HbS | β | VARIANT II | β-thal Short Program | 25.3 | 4.43 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | |
| 250 | HbS | β | VARIANT II | Dual Kit Program | 24.1 | 3.49 | HbS carrier with homozygous alpha + thalassemia. | [PDF] | |
| 252 | HbS | β | VARIANT II | β-thal Short Program | 79.8 | 4.47 | Homozygous HbS. HbA remains from a blood transfusion. | [PDF] | |
| 253 | HbS | β | VARIANT II | Dual Kit Program | 77.9 | 3.48 | Homozygous HbS with high HbA1c. | [PDF] | |
| 264 | HbS | β | VARIANT II | Dual Kit Program | 73.7 | 3.387 | Classical chromatogram of a SS patient, the high HbF level suggests that the patient may be heterozygote (or perhaps homozygote) for one of the haplotype stimulating HbF synthesis. | [PDF] | |
| 315 | HbS | β | VARIANT II | β-thal Short Program | 36.9 | 4.43 | HbS homozygote, transfused. | [PDF] | |
| 316 | HbS | β | VARIANT II | Dual Kit Program | 33.3 | 3.47 | HbS homozygote, transfused. | [PDF] | |
| 398 | HbS | β | VARIANT II | β-thal Short Program | 27.5 | 4.43 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | |
| 399 | HbS | β | VARIANT II | Dual Kit Program | 27.1 | 3.487 | HbS carrier with alpha thalassemia (homoz. alpha 3.7). | [PDF] | |
| 402 | HbS | β | VARIANT II | β-thal Short Program | 31.9 | 4.44 | HbS carrier + alpha-thal 2 (-3.7 del.). | [PDF] | |
| 403 | HbS | β | VARIANT II | Dual Kit Program | 30.5 | 3.499 | HbS + alpha-thal 2 (-3.7 del.). | [PDF] | |
| 456 | HbS | β | VARIANT II | Dual Kit Program - HbA1c | 44.9 | 2.035 | Compound heterozygote between HbS and HbC | [PDF] | |
| 457 | HbS | β | VARIANT II | Dual Kit Program - HbA1c | 85.6 | 1.87 | Classic chromatogram of an SS patient. | [PDF] | |
| 466 | HbS | β | VARIANT II | HbA1c Program | 52.1 | 1.94 | Compound heterozygote between HbS and HbC | [PDF] | |
| 468 | HbS | β | VARIANT II | β-thal Short Program | 77.5 | 4.43 | Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)). | [PDF] | |
| 469 | HbS | β | VARIANT II | Dual Kit Program | 68.5 | 3.437 | Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)). | [PDF] | |
| 497 | HbS | β | VARIANT II | β-thal Short Program | 53.5 | 4.46 | Hb S/beta thal (probably a delta-beta thalassemia). | [PDF] | |
| 498 | HbS | β | VARIANT II | Dual Kit Program | 38.6 | 3.472 | Hb S/beta thal (probably a delta-beta thalassemia). | [PDF] | |
| 501 | HbS | β | VARIANT II | β-thal Short Program | 11.8 | 4.36 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | |
| 502 | HbS | β | VARIANT II | Dual Kit Program | 6.9 | 3.545 | Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS. | [PDF] | |
| 505 | HbS | β | VARIANT II | β-thal Short Program | 64.1 | 4.45 | HbS homozygous with HPFH. | [PDF] | |
| 506 | HbS | β | VARIANT II | Dual Kit Program | 53.6 | 3.465 | HbS homozygous with HPFH. | [PDF] | |
| 512 | HbS | β | VARIANT II | Dual Kit Program | 45.7 | 3.427 | Compound heterozygote for HbS and HbC | [PDF] | |
| 516 | HbS | β | VARIANT II | Dual Kit Program | 70.6 | 3.402 | Compound heterozygote for HbS and Beta (+) thal. | [PDF] | |
| 521 | HbS | β | VARIANT II | Dual Kit Program | 46.7 | 3.429 | Compound heterozygote for HbS and HbC | [PDF] | |
| 525 | HbS | β | VARIANT II | β-thal Short Program | 66 | 4.44 | Compound heterozygote for HbS and B (+) thalassemia | [PDF] | |
| 526 | HbS | β | VARIANT II | Dual Kit Program | 59.5 | 3.432 | Compound heterozygote for HbS and B (+) thalassaemia. | [PDF] | |
| 531 | HbS | β | VARIANT II | β-thal Short Program | 45.9 | 4.45 | Compound heterozygote for HbS and HbC | [PDF] | |
| 533 | HbS | β | VARIANT II | Dual Kit Program | 44.6 | 3.44 | Compound heterozygote for HbS and HbC. | [PDF] | |
| 539 | HbS | β | VARIANT II | β-thal Short Program | 37 | 4.42 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | |
| 541 | HbS | β | VARIANT II | Dual Kit Program | 37.5 | 3.455 | Compound heterozygote for HbS and Hb D-Punjab. | [PDF] | |
| 561 | HbS | β | VARIANT II | β-thal Short Program | 32.5 | 4.46 | HbS carrier + alpha-thal 2 (-3.7 deletion). | [PDF] | |
| 562 | HbS | β | VARIANT II | Dual Kit Program | 31.1 | 3.452 | HbS carrier + alpha-thal 2 (-3.7 deletion). | [PDF] | |
| 612 | HbS | β | VARIANT II | β-thal Short Program | 37.9 | 4.46 | HbS carrier with Hb Montgomery (alpha variant). | [PDF] | |
| 614 | HbS | β | VARIANT II | Dual Kit Program | 28.8 | 3.489 | HbS carrier with Hb Montgomery (alpha variant). | [PDF] |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
- Ingram VM, A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin., Nature , 178(4537), 792-4, 1956 PubMed
- Ingram VM, Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins., Biochim. Biophys. Acta , 36(0), 402-11, 1959 PubMed
- Wishner BC, Ward KB, Lattman EE, Love WE, Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution., J. Mol. Biol. , 98(1), 179-94, 1975 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-07-03 09:21:12 (Show full history)
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