IthaID: 824



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAG>GTG [Glu>Val] HGVS Name: HBB:c.20A>T
Hb Name: HbS Protein Info: β 6(A3) Glu>Val

Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)

Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Sickle-cell

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70614
Size: 1 bp
Located at: β
Specific Location: Exon 1

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Indian, and many other
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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
6HbSβD-10Dual Kit Program34.24.06Heterozygous / Sickle Cell Trait[PDF]
10HbSβD-10HbA1c Program401.65Heterozygous / Sickle Cell Trait[PDF]
12HbSβD-10HbA1c Program81.21.65Homozygous[PDF]
27HbSβD-10Dual Kit Program52.74.04Compound heterozygote between HbS and HPFH [PDF]
36HbSβD-10HbA1c Program38.21.77Compound heterozygote between HbS and HbC[PDF]
45HbSβD-10Dual Kit Program21.34.11HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). [PDF]
230HbSβD-10Dual Kit Program83.34.02Homozygote. Classical chromatogram of an SS patient. [PDF]
236HbSβD-10Dual Kit Program88.54.04Homozygous Hb S. The trace amount of HbA remains from a blood transfusion.[PDF]
241HbSβD-10Dual Kit Program70.34.04Homozygous HbS recently transfused. [PDF]
247HbSβD-10Dual Kit Program23.34.1HbS carrier with homozygous alpha + thalassemia.[PDF]
251HbSβD-10Dual Kit Program74.14.07[PDF]
262HbSβD-10Dual Kit Program74.84.04Classical 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]
313HbSβD-10Dual Kit Program32.44.08Homozygous HbS recently transfused (Exchange transfused) [PDF]
396HbSβD-10Dual Kit Program26.44.09HbS carrier with alpha thalassemia (homoz. alpha 3.7). [PDF]
400HbSβD-10Dual Kit Program304.09HbS carrier + alpha-thal 2 (-3.7 del.). [PDF]
467HbSβD-10Dual Kit Program67.94.03Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)) [PDF]
490HbSβD-10Dual Kit Program31.44.07Compound heterozygote for HbC and HbS[PDF]
496HbSβD-10Dual Kit Program39.54.22Hb S/beta thal (probably a delta-beta thalassemia). [PDF]
499HbSβD-10Dual Kit Program84.12Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS.[PDF]
503HbSβD-10Dual Kit Program54.44.07HbS homozygous with HPFH. [PDF]
508HbSβD-10Dual Kit Program464.08Compound heterozygote for HbS and HbC, together with alpha-thal 2. [PDF]
514HbSβD-10Dual Kit Program69.24.05Compound heterozygote for HbS and Beta (+) thal [PDF]
517HbSβD-10Dual Kit Program46.14.06Compound heterozygote for HbS and HbC[PDF]
523HbSβD-10Dual Kit Program58.94.06Compound heterozygote for HbS and B (+) thalassaemia.[PDF]
527HbSβD-10Dual Kit Program44.44.07Compound heterozygote for HbS and HbC[PDF]
559HbSβD-10Dual Kit Program30.74.08HbS carrier with alpha-thalassaemia (α3.7/αα). [PDF]
7HbSβVARIANTβ-thal Short Program34.54.26Heterozygous / Sickle Cell Trait[PDF]
43HbSβVARIANTβ-thal Short Program77.24.3Compoud heterozygote between HbS and beta (0) thal.[PDF]
46HbSβVARIANTβ-thal Short Program22.94.35HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2). [PDF]
231HbSβVARIANTβ-thal Short Program38.44.24Homozygote. Classical chromatogram of an SS patient.[PDF]
238HbSβVARIANTβ-thal Short Program90.44.26Sickle cell disease. The trace amount of HbA remains from a blood transfusion.[PDF]
242HbSβVARIANTβ-thal Short Program74.54.26Homozygous HbS recently transfused. [PDF]
248HbSβVARIANTβ-thal Short Program22.44.25HbS carrier with homozygous alpha + thalassemia.[PDF]
263HbSβVARIANTβ-thal Short Program80.84.38Classical 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]
314HbSβVARIANTβ-thal Short Program36.44.31HbS homozygote, transfused. [PDF]
397HbSβVARIANTβ-thal Short Program28.24.3HbS carrier with alpha thalassemia (homoz. alpha 3.7). [PDF]
401HbSβVARIANTβ-thal Short Program324.33HbS carrier + alpha-thal 2 (-3.7 del.). [PDF]
491HbSβVARIANTβ-thal Short Program31.44.37compound heterozygote for HbC and HbS[PDF]
500HbSβVARIANTβ-thal Short Program124.22Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS.[PDF]
504HbSβVARIANTβ-thal Short Program62.84.26HbS homozygous with HPFH.[PDF]
507HbSβVARIANTβ-thal Short Program79.74.37Homozygous HbS. HbA remains from a blood transfusion. [PDF]
510HbSβVARIANTβ-thal Short Program45.14.35Compound heterozygote for HbS and HbC[PDF]
515HbSβVARIANTβ-thal Short Program74.64.38Compound heterozygote for HbS and Beta (+) thal[PDF]
519HbSβVARIANTβ-thal Short Program45.84.37Compound heterozygote for HbS and HbC[PDF]
524HbSβVARIANTβ-thal Short Program64.24.32Compound heterozygote for HbS and B (+) thalassemia[PDF]
529HbSβVARIANTβ-thal Short Program44.74.36Compound heterozygote for HbS and HbC[PDF]
537HbSβVARIANTβ-thal Short Program40.24.3Compound heterozygote for HbS and Hb D-Punjab[PDF]
560HbSβVARIANTβ-thal Short Program31.64.35HbS carrier + alpha-thal 2 (-3.7 deletion). [PDF]
8HbSβVARIANT IIβ-thal Short Program34.64.4Heterozygous / Sickle Cell Trait[PDF]
9HbSβVARIANT IIDual Kit Program33.73.47Heterozygous / Sickle Cell Trait[PDF]
11HbSβVARIANT IIHbA1c Program39.21.94Sickle Cell Trait[PDF]
13HbSβVARIANT IIHbA1c Program84.41.93Homozygous[PDF]
28HbSβVARIANT IIβ-thal Short Program69.44.41Compound heterozygote for HbS and HPFH[PDF]
29HbSβVARIANT IIHbA1c Program39.21.94Heterozygote / Sickle Cell Trait[PDF]
42HbSβVARIANT IIDual Kit Program - HbA1c44.71.88Heterozygous / Sickle Cell Trait[PDF]
47HbSβVARIANT IIDual Kit Program23.84.46HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2).[PDF]
48HbSβVARIANT IIDual Kit Program21.33.49HbS heterozygote with alpha thalassaemia (HbS + alpha-thal 2).[PDF]
239HbSβVARIANT IIβ-thal Short Program91.14.45Sickle cell disease. The trace amount of HbA remains from a blood transfusion.[PDF]
240HbSβVARIANT IIDual Kit Program86.63.44Sickle cell disease. The trace amount of HbA remains from a blood transfusion.[PDF]
243HbSβVARIANT IIβ-thal Short Program75.34.43Homozygous HbS recently transfused. [PDF]
244HbSβVARIANT IIDual Kit Program68.93[PDF]
245HbSβVARIANT IIDual Kit Program68.93[PDF]
246HbSβVARIANT IIDual Kit Program68.93.45[PDF]
249HbSβVARIANT IIβ-thal Short Program25.34.43HbS carrier with homozygous alpha + thalassemia.[PDF]
250HbSβVARIANT IIDual Kit Program24.13.49HbS carrier with homozygous alpha + thalassemia.[PDF]
252HbSβVARIANT IIβ-thal Short Program79.84.47Homozygous HbS. HbA remains from a blood transfusion. [PDF]
253HbSβVARIANT IIDual Kit Program77.93.48Homozygous HbS with high HbA1c.[PDF]
264HbSβVARIANT IIDual Kit Program73.73.387Classical 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]
315HbSβVARIANT IIβ-thal Short Program36.94.43HbS homozygote, transfused. [PDF]
316HbSβVARIANT IIDual Kit Program33.33.47HbS homozygote, transfused. [PDF]
398HbSβVARIANT IIβ-thal Short Program27.54.43HbS carrier with alpha thalassemia (homoz. alpha 3.7). [PDF]
399HbSβVARIANT IIDual Kit Program27.13.487HbS carrier with alpha thalassemia (homoz. alpha 3.7). [PDF]
402HbSβVARIANT IIβ-thal Short Program31.94.44HbS carrier + alpha-thal 2 (-3.7 del.). [PDF]
403HbSβVARIANT IIDual Kit Program30.53.499HbS + alpha-thal 2 (-3.7 del.).[PDF]
456HbSβVARIANT IIDual Kit Program - HbA1c44.92.035Compound heterozygote between HbS and HbC[PDF]
457HbSβVARIANT IIDual Kit Program - HbA1c85.61.87Classic chromatogram of an SS patient. [PDF]
466HbSβVARIANT IIHbA1c Program52.11.94Compound heterozygote between HbS and HbC[PDF]
468HbSβVARIANT IIβ-thal Short Program77.54.43Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)).[PDF]
469HbSβVARIANT IIDual Kit Program68.53.437Heterozygote for Hb S/beta zero thal (Beta(0) CD39 (C/T)). [PDF]
497HbSβVARIANT IIβ-thal Short Program53.54.46Hb S/beta thal (probably a delta-beta thalassemia). [PDF]
498HbSβVARIANT IIDual Kit Program38.63.472Hb S/beta thal (probably a delta-beta thalassemia). [PDF]
501HbSβVARIANT IIβ-thal Short Program11.84.36Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS.[PDF]
502HbSβVARIANT IIDual Kit Program6.93.545Newborn homozygous for HbS. The peak eluting at the position of HbA2 may be aged HbS.[PDF]
505HbSβVARIANT IIβ-thal Short Program64.14.45HbS homozygous with HPFH.[PDF]
506HbSβVARIANT IIDual Kit Program53.63.465HbS homozygous with HPFH.[PDF]
512HbSβVARIANT IIDual Kit Program45.73.427Compound heterozygote for HbS and HbC[PDF]
516HbSβVARIANT IIDual Kit Program70.63.402Compound heterozygote for HbS and Beta (+) thal.[PDF]
521HbSβVARIANT IIDual Kit Program46.73.429Compound heterozygote for HbS and HbC[PDF]
525HbSβVARIANT IIβ-thal Short Program664.44Compound heterozygote for HbS and B (+) thalassemia[PDF]
526HbSβVARIANT IIDual Kit Program59.53.432Compound heterozygote for HbS and B (+) thalassaemia.[PDF]
531HbSβVARIANT IIβ-thal Short Program45.94.45Compound heterozygote for HbS and HbC[PDF]
533HbSβVARIANT IIDual Kit Program44.63.44Compound heterozygote for HbS and HbC.[PDF]
539HbSβVARIANT IIβ-thal Short Program374.42Compound heterozygote for HbS and Hb D-Punjab.[PDF]
541HbSβVARIANT IIDual Kit Program37.53.455Compound heterozygote for HbS and Hb D-Punjab.[PDF]
561HbSβVARIANT IIβ-thal Short Program32.54.46HbS carrier + alpha-thal 2 (-3.7 deletion). [PDF]
562HbSβVARIANT IIDual Kit Program31.13.452HbS carrier + alpha-thal 2 (-3.7 deletion). [PDF]
612HbSβVARIANT IIβ-thal Short Program37.94.46HbS carrier with Hb Montgomery (alpha variant). [PDF]
614HbSβVARIANT IIDual Kit Program28.83.489HbS carrier with Hb Montgomery (alpha variant). [PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Ingram VM, A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin., Nature , 178(4537), 792-4, 1956 PubMed
  2. Ingram VM, Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins., Biochim. Biophys. Acta , 36(0), 402-11, 1959 PubMed
  3. 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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