IthaID: 1247

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 129 GCC>? [Ala>Asp or Ala>Glu] HGVS Name: HBB:c.389C>A | HBB:c.389_390delinsAA or HBB:c.389_390delinsAG
Hb Name: Hb K-Cameroon Protein Info: β 129(H7) Ala>Asp OR β 129(H7) Ala>Glu

Protein sequence:

Also known as:

Comments: Found in combination with Hb S. Characterization by protein analysis was incomplete. The Hb K-Cameroon caused by the substıtutıon of the neutral β129 Ala resıdue by an acıdıc residue (Asp or Glu). Therefore, the codon 129-GCC (Ala), can be mutated to GAC (Asp) but not easily to GAA or GAG (Glu).

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71963
Size: 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: Cameroon
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2010-06-16 16:13:17, Last reviewed on 2021-04-07 08:48:56 (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.