IthaID: 487


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 23 GAG>GTG [Glu>Val] HGVS Name: HBA1:c.71A>T | HBA2:c.71A>T
Hb Name: Hb G-Audhali Protein Info: α2 or α1 23(B4) Glu>Val

Context nucleotide sequence:
GGTAAGGTCGGCGCGCACGCTGGCG [A/C/G/T] GTATGGTGCGGAGGCCCTGGAGAGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGVYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33846 or 37650
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Marengo-Rowe AJ, Beale D, Lehmann H, New human haemoglobin variant from southern Arabia: G-Audhali (alpha-23(B4) glutamic acid--valine) and the variability of B4 in human haemoglobin., Nature, 219(5159), 1164-6, 1968
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-11 14:12:22 (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.