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

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

Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Sickle-cell

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM
SwissVar

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

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

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
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)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-16 15:06:32	The IthaGenes Curation Team	Reviewed.
3	2014-04-23 17:20:01	The IthaGenes Curation Team	Reviewed. Added ClinVar link.
4	2019-07-03 09:21:12	The IthaGenes Curation Team	Reviewed. Phenotype corrected.

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