IthaID: 1110

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 93 TGT>CGT: CD 121 GAA>CAA HGVS Name: HBB:c.[280T>C;364G>C]
Hb Name: Hb Cleveland Protein Info: β β 93(F9) Cys>Arg AND 121(GH4) Glu>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71004
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: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wilson JB, Ramachandran M, Webber BB, Kutlar F, Hazelwood LF, Barnett D, Hirschler NV, Huisman TH, Hb Cleveland or alpha 2 beta 2(93)(F9)Cys----Arg;121(GH4)Glu----Gln., Hemoglobin, 15(4), 269-78, 1991
Created on 2010-06-16 16:13:16, 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.