IthaID: 1466

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22 GAT>GGT HGVS Name: HBG1:c.68A>G
Hb Name: Hb F-Kuala Lumpur Protein Info: Aγ 22(B4) Asp>Gly

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 47879
Size: 1 bp
Located at:
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-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: N/A
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: No

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. Luan Eng LI, Wiltshire BG, Lehmann H, Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala., Biochimica et biophysica acta, 322(2), 224-30, 1973 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (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.