IthaID: 706

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111 GCC>ACC [Ala>Thr] HGVS Name: HBA1:c.334G>A | HBA2:c.334G>A
Hb Name: Hb Mosella Protein Info: α2 or α1 111(G18) Ala>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34368 or 38179
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3


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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Blouquit Y, Lahary A, Soummer AM, Groff P, Bardakdjian J, Préhu C, Riou J, Godard C, Galactèros F, Three new neutral alpha chain variants: Hb Bois Guillaume [alpha 65(E14(Ala-->Val], Hb Mantes-la-Jolie [alpha 79(EF8)Ala-Thr], and Hb Mosella [alpha 111(G18)Ala-->Thr]., Hemoglobin , 19(5), 281-6, 1995 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 16:42:17 (Show full history)

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