IthaID: 1277


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 139 AAT>TAT HGVS Name: HBB:c.418A>T
Hb Name: Hb Aurora Protein Info: β 139(H17) Asn>Tyr

Context nucleotide sequence:
TCAGAAAGTGGTGGCTGGTGTGGCT [A>T] ATGCCCTGGCCCACAAGTATCACTA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVAYALAHKYH

Also known as:

Comments: Reported as a high oxygen affinity Hb variant in an individual of Dutch descent with a rich medical history. Residue β139 is not involved in the α1β2 or α1β1 interfaces, but is close to the carboxy terminal end of the β chain located in the central cavity of the Hb molecule near the 2,3-DPG binding site. The Asn at β139 interacts with β82 Lys, which is a 2,3-DPG binding site. The substitution of different amino acids at β139 may alter the 2,3-DPG binding capabilities of Hb and in turn alter its oxygen affinity.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71992
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Dutch
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Lafferty J, Ali M, Matthew K, Eng B, Patterson M, Waye JS, Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr], Hemoglobin, 19(6), 335-41, 1995
Created on 2010-06-16 16:13:17, Last reviewed on 2024-02-22 15:46:35 (Show full history)

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