IthaID: 1051

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 75 CTG>CCG HGVS Name: HBB:c.227T>C
Hb Name: Hb Atlanta Protein Info: β 75(E19) Leu>Pro

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Autosomal dominant for unstable hemoglobin disease (MONDO:0020459).


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70951
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Caucasian | Dutch | New Zealand
Molecular mechanism: Altered secondary structure
Inheritance: Dominant
DNA Sequence Determined: Yes

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

  1. Hubbard M, Winton EF, Lindeman JG, Dessauer PL, Wilson JB, Wrightstone RN, Huisman TH, Hemoglobin Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family., Biochimica et biophysica acta, 386(2), 538-41, 1975 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-10-24 10:21:31 (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.