IthaID: 667

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 92 CGG>TGG [Arg>Trp] HGVS Name: HBA1:c.277C>T | HBA2:c.277C>T
Hb Name: Hb Cemenelum Protein Info: α2 or α1 92(FG4) Arg>Trp

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34169 or 37973
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wajcman H, Kister J, M'Rad A, Soummer AM, Galacteros F, Hb Cemenelum [alpha 92 (FG4) Arg-->Trp]: a hemoglobin variant of the alpha 1/beta 2 interface that displays a moderate increase in oxygen affinity., Ann. Hematol. , 68(2), 73-6, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 11:33:58 (Show full history)

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