IthaID: 3324

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser] HGVS Name: HBB:c.[20A>T;419A>G]
Hb Name: Hb S-Wake Protein Info: β 6(A3) Glu>Val AND β 139(H17) Asn>Ser

Also known as:

Comments: Hb S-Wake [β(Glu6Val-Asn139Ser)] found in trans with Hb S [β(Glu6Val)], together with homozygous α+ thalassaemia (-α3.7/-α3.7), in an individual presenting with sickle cell disease. The site of βAsn139 lies within the central cavity proximal to the 2,3-diphosphoglycerate pocket. Asparagine (Asn) possesses nonpolar uncharged side chains, while serine (Ser) exhibits polar uncharged side chains. Substituting Asn with Ser at this position is expected to yield a similar effect without altering the function or stability of the variant hemoglobin (Hb).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70614 or 71993
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Kutlar F, Redding-Lallinger R, Meiler SE, Bakanay SM, Borders L, Kutlar A, A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics., Acta Haematol, 124(2), 120-4, 2010 PubMed
Created on 2018-02-22 18:47:24, Last reviewed on 2024-02-22 14:10:11 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.