IthaID: 691



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 99 AAG>AAT [Lys>Asn] HGVS Name: HBA1:c.300G>T
Hb Name: Hb Beziers Protein Info: α1 99(G6) Lys>Asn

Context nucleotide sequence:
TTCGGGTGGACCCGGTCAACTTCAA [G/T] GTGAGCGGCGGGCCGGGAGCGATCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFNLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Harlow

Comments: The lysine residue at α99(G6) is in the central cavity of the haemoglobin tetramer, situated in the region of the α1β1 contact. The Lys>Asn substitution was reported to bind β globin normally but to disrupt AHSP binding, thus destabilizing α globin. Variant was not associated with any haematological disturbance. Reported in a French Caucasian person during HbA1c screening.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37996
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: French
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Lacan P, Aubry M, Couprie N, Francina A, Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)]., Hemoglobin , 28(1), 59-63, 2004 PubMed
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-24 09:07:42 (Show full history)

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