IthaID: 1015

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 65 AAG>ATG; CD 122 TTC>CTC or TTG or TTA HGVS Name: HBB:c.[367T>C ; 197A>T] | HBB:c.[369C>A ; 197A>T] | HBB:c.[369C>G; 197A>T]
Hb Name: Hb Casablanca Protein Info: β 65(E9) Lys>Met AND β 122(GH 5) Phe>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:


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: 71941
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: Moroccan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Drupt F, Henthorn JS, Kister J, Prehu C, Riou J, Promé D, Galactéros F, Two new variants with the same substitution at position beta122: Hb Bushey [beta122(GH5)Phe-->Leu] and Hb Casablanca [beta65(E9)lys-->Met; beta122(GH5)Phe-->Leu]., Hemoglobin, 24(2), 125-32, 2000 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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