IthaID: 1218



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 121 GAA>AAA HGVS Name: HBB:c.364G>A
Hb Name: Hb O-Arab Protein Info: β 121(GH4) Glu>Lys

Context nucleotide sequence:
TGTGCTGGCCCATCACTTTGGCAAA [A/C/G/T] AATTCACCCCACCAGTGCAGGCTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKKFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Egypt , Hb O-Thrace

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71938
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African | Arabian | Egyptian | Balkanese
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
301Hb O-ArabβD-10Dual Kit Program29.44.57Heterozygote, clinically normal.[PDF]
569Hb O-ArabβD-10Dual Kit Program41.64.56Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. [PDF]
304Hb O-ArabβVARIANT IIDual Kit Program30.64.01Heterozygote, clinically normal. [PDF]
575Hb O-ArabβVARIANT IIDual Kit Program42.13.999Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. [PDF]
302Hb O-ArabβVARIANTβ-thal Short Program32.94.3Heterozygote, clinically normal. [PDF]
571Hb O-ArabβVARIANTβ-thal Short Program44.84.85Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. [PDF]
303Hb O-ArabβVARIANT IIβ-thal Short Program32.34.91Heterozygote, clinically normal. [PDF]
573Hb O-ArabβVARIANT IIβ-thal Short Program46.14.9Compound heterozygosity for HbC and Hb O Arab (extremely rare). This situation is important to be identified for genetic counselling since both alleles when associated to HbS lead to a severe sickle cell syndrome. [PDF]
24Hb O-ArabβD-10HbA1c Program64.91.49Heterozygous; Heterozygote clinically normal. Homozygote present with a mild microcytic anemia. When associated to HbS leads to a severe sickle cell anemia.[PDF]
25Hb O-ArabβVARIANT IIHbA1c Program31.32.02Heterozygous; Heterozygote clinically normal. Homozygote present with a mild microcytic anemia. When associated to HbS leads to a severe sickle cell anemia.[PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Vella F, Beale D, Lehmann H, Haemoglobin O Arab in Sudanese., Nature, 209(5020), 308-9, 1966 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-06-02 12:19:35 (Show full history)

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